Lista de obras - Lihadh Al-Gazali - Dominio Público Uruguay

A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the ER quality control in the mechanism of some β3GalT6-pathy mutations.

artículo científico publicado en 2018

A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child

artículo científico publicado en 2015

A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins

artículo científico publicado en 2017

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts

artículo científico publicado en 2010

A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

artículo científico publicado en 2016

A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion

artículo científico publicado en 2012

A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

artículo científico publicado en 2012

A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy ⬇️

artículo científico publicado el 26 de octubre de 2010

A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss

artículo científico publicado en 2017

A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract

artículo científico publicado en 2016

A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development

artículo científico publicado en 2015

A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22

A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking

artículo científico publicado en 2014

A novel mutation in PRG4 gene underlying camptodactyly-arthropathy-coxa vara-pericarditis syndrome with the possible expansion of the phenotype to include congenital cataract

article

A novel whole exon deletion in WWOX gene causes early epilepsy, intellectual disability and optic atrophy

artículo científico publicado en 2014

A null variant in PUS3 confirms its involvement in intellectual disability and further delineates the associated neurodevelopmental disease

scientific article published on 11 October 2018

A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2.

artículo científico publicado en 2013

A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene

artículo científico publicado en 2016

A recessive truncating variant in thrombospondin-1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family

artículo científico publicado en 2018

A response to Dr. Alzahrani's letter to the editor regarding the mechanism underlying fibrochondrogenesis

artículo científico publicado en 2013

An SCN9A channelopathy causes congenital inability to experience pain

artículo científico publicado en 2006

An integrative computational approach for prioritization of genomic variants

artículo científico publicado en 2014

Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report

artículo científico publicado en 2008

Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A.

artículo científico publicado en 2013

Anterior segment anomalies of the eye, growth retardation associated with hypoplastic pituitary gland and endocrine abnormalities: Jung syndrome or a new syndrome?

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.

artículo científico publicado en 2014

BRCA1 and BRCA2 mutations in breast cancer patients from Saudi Arabia

scientific article published on 01 June 2003

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

scientific article published on 25 December 2018

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

artículo científico publicado en 2015

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

artículo científico publicado en 2007

Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication

scientific journal article

Clathrin heavy chain 22 contributes to the control of neuropeptide degradation and secretion during neuronal development

artículo científico publicado en 2018

Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family

artículo científico publicado en 2014

Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene

artículo científico publicado en 2012

Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family

artículo científico publicado en 2015

Community genetics. Its definition 2010.

artículo científico publicado en 2010

Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus.

artículo científico publicado en 2018

Consanguinity and dysmorphology in Arabs

artículo científico publicado en 2014

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

artículo científico publicado en 2016

Cover Image, Volume 170A, Number 8, August 2016

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux

artículo científico publicado en 2009

Defective cellular trafficking of the bone morphogenetic protein receptor type II by mutations underlying familial pulmonary arterial hypertension

artículo científico publicado en 2015

Defective membrane expression of the Na + -HCO 3 − cotransporter NBCe1 is associated with familial migraine ⬇️

artículo científico publicado el 23 de agosto de 2010

Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndrome

artículo científico publicado en 2018

Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts

artículo científico publicado en 2013

Determination of the CCR5∆32 frequency in Emiratis and Tunisians and the screening of the CCR5 gene for novel alleles in Emiratis

artículo científico publicado en 2013

Distinguishing the four genetic causes of Jouberts syndrome-related disorders

artículo científico publicado en 2005

Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy

artículo científico publicado en 2017

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

artículo científico publicado en 2016

Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia

artículo científico publicado en 2011

Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

artículo científico publicado en 2017

Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs

artículo científico publicado en 2015

Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities

scientific article published on 01 March 2020

Evaluating the forensic informativeness of mtDNA haplogroup H sub-typing on a Eurasian scale

artículo científico publicado en 2005

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

artículo científico publicado en 2012

Expanding the clinical and genetic spectra of NKX6-2-related disorder

artículo científico publicado en 2018

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

artículo científico publicado en 2011

Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities

artículo científico publicado en 2005

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

artículo científico publicado en 2012

Genetic Disorders in the United Arab Emirates

Genetic disorders in the Arab world

artículo científico publicado en 2006

Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes

artículo científico publicado en 2012

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

artículo científico publicado en 2017

Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings

artículo científico publicado en 2015

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

artículo científico publicado en 2017

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome

artículo científico publicado en 2014

High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium

artículo científico publicado en 2005

Hypotonia, developmental delay and features of scalp???ear???nipple syndrome in an inbred Arab family

Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population

artículo científico publicado en 2011

Impaired trafficking of the very low density lipoprotein receptor caused by missense mutations associated with dysequilibrium syndrome

artículo científico publicado en 2014

Improved diagnosis of a common mutation (R248C) in the human growth factor receptor 3 (FGFR3) gene that causes type I Thanatophoric dysplasia

artículo científico publicado en 2003

Improved plasma membrane expression of the trafficking defective P344R mutant of muscle, skeletal, receptor tyrosine kinase (MuSK) causing congenital myasthenic syndrome.

artículo científico publicado en 2015

In search of triallelism in Bardet–Biedl syndrome ⬇️

artículo científico publicado el 22 de febrero de 2012

Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?

LINS, a modulator of the WNT signaling pathway, is involved in human cognition

artículo científico publicado en 2013

Laboratory life: Scientists of the world speak up for equality

artículo científico publicado en 2013

Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.

artículo científico publicado en 2003

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

artículo científico publicado en 2011

METTL23, a transcriptional partner of GABPA, is essential for human cognition

artículo científico publicado en 2014

Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates

artículo científico publicado en 2010

Mutation spectrum of Joubert syndrome and related disorders among Arabs

artículo científico publicado en 2014

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

artículo científico publicado en 2009

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

artículo científico publicado en 2016

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

artículo científico publicado en 2006

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

artículo científico publicado en 2012

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

artículo científico publicado en 2009

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

artículo científico publicado en 2007

Mutations in PYCR1 cause cutis laxa with progeroid features

artículo científico publicado en 2009

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria

artículo científico publicado en 2004

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

artículo científico publicado en 2008

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome

artículo científico publicado en 2006

Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum

artículo científico publicado en 2010

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

artículo científico publicado en 2008

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).

scientific article published on May 2010

New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation

artículo científico publicado en 2015

Normal glycosylation screening does not rule out SRD5A3-CDG ⬇️

artículo científico publicado el 13 de julio de 2011

Novel KCNQ2 mutation in a large Emirati family with benign familial neonatal seizures

artículo científico publicado en 2013

Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates

artículo científico publicado en 2013

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features

scientific article published on 13 November 2018

Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises

artículo científico publicado en 2017

Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy

artículo científico publicado en 2003

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

scientific journal article

Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival

artículo científico publicado en 2020

Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations

artículo científico publicado en 2012

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

artículo científico publicado en 2010

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport ⬇️

artículo científico publicado en 2015

TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT

artículo científico publicado en 2016

The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.

artículo científico publicado en 2014

Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients

artículo científico publicado en 2010

Using whole-exome sequencing to identify inherited causes of autism

artículo científico publicado en 2013

Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome

artículo científico publicado en 2012

Lista de obras de Lihadh Al-Gazali

A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the ER quality control in the mechanism of some β3GalT6-pathy mutations.

A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child

A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts

A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion

A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy ⬇️

A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss

A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract

A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development

A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22

A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking

A novel mutation in PRG4 gene underlying camptodactyly-arthropathy-coxa vara-pericarditis syndrome with the possible expansion of the phenotype to include congenital cataract

A novel whole exon deletion in WWOX gene causes early epilepsy, intellectual disability and optic atrophy

A null variant in PUS3 confirms its involvement in intellectual disability and further delineates the associated neurodevelopmental disease

A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2.

A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene

A recessive truncating variant in thrombospondin-1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family

A response to Dr. Alzahrani's letter to the editor regarding the mechanism underlying fibrochondrogenesis

An SCN9A channelopathy causes congenital inability to experience pain

An integrative computational approach for prioritization of genomic variants

Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report

Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A.

Anterior segment anomalies of the eye, growth retardation associated with hypoplastic pituitary gland and endocrine abnormalities: Jung syndrome or a new syndrome?

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.

BRCA1 and BRCA2 mutations in breast cancer patients from Saudi Arabia

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication

Clathrin heavy chain 22 contributes to the control of neuropeptide degradation and secretion during neuronal development

Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family

Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene

Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family

Community genetics. Its definition 2010.

Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus.

Consanguinity and dysmorphology in Arabs

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Cover Image, Volume 170A, Number 8, August 2016

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux

Defective cellular trafficking of the bone morphogenetic protein receptor type II by mutations underlying familial pulmonary arterial hypertension

Defective membrane expression of the Na + -HCO 3 − cotransporter NBCe1 is associated with familial migraine ⬇️

Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndrome

Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts

Determination of the CCR5∆32 frequency in Emiratis and Tunisians and the screening of the CCR5 gene for novel alleles in Emiratis

Distinguishing the four genetic causes of Jouberts syndrome-related disorders

Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia

Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs

Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities

Evaluating the forensic informativeness of mtDNA haplogroup H sub-typing on a Eurasian scale

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

Expanding the clinical and genetic spectra of NKX6-2-related disorder

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

Genetic Disorders in the United Arab Emirates

Genetic disorders in the Arab world

Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome

High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium

Hypotonia, developmental delay and features of scalp???ear???nipple syndrome in an inbred Arab family

Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population

Impaired trafficking of the very low density lipoprotein receptor caused by missense mutations associated with dysequilibrium syndrome

Improved diagnosis of a common mutation (R248C) in the human growth factor receptor 3 (FGFR3) gene that causes type I Thanatophoric dysplasia

Improved plasma membrane expression of the trafficking defective P344R mutant of muscle, skeletal, receptor tyrosine kinase (MuSK) causing congenital myasthenic syndrome.

In search of triallelism in Bardet–Biedl syndrome ⬇️