Lista de obras - Zafar Iqbal - Dominio Público Uruguay

A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.

artículo científico publicado en 2014

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

artículo científico publicado en 2012

A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis.

artículo científico publicado en 2015

A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family

artículo científico publicado en 2011

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.

artículo científico publicado en 2017

CHCHD2 and Parkinson's disease

artículo científico publicado en 2015

Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

artículo científico publicado en 2018

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

artículo científico publicado en 2015

Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome

artículo científico publicado en 2010

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features

artículo científico publicado en 2014

Exome sequencing identifies three novel candidate genes implicated in intellectual disability

artículo científico publicado en 2014

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

artículo científico publicado en 2016

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems

scientific journal article

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

artículo científico publicado en 2017

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

artículo científico publicado en 2013

Huh-7 cell line as an alternative cultural model for the production of human like erythropoietin (EPO).

artículo científico publicado en 2011

Identifying genes responsible for intellectual disability in consanguineous families

artículo científico publicado en 2014

Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia

artículo científico publicado en 2019

Missense mutations in DYT-TOR1A dystonia

artículo científico publicado en 2019

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.

artículo científico publicado en 2015

Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies

artículo científico publicado en 2019

Novel UCHL1 mutations reveal new insights into ubiquitin processing

artículo científico publicado en 2017

Rare variants in dementia genes and Parkinson's disease

artículo científico publicado en 2016

TMEM230 variants in Parkinson's disease.

artículo científico publicado en 2019

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia

artículo científico publicado en 2017

Targeted next generation sequencing reveals a novel intragenic deletion of the TPO gene in a family with intellectual disability

artículo científico publicado en 2012

Lista de obras de Zafar Iqbal

A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis.

A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.

CHCHD2 and Parkinson's disease

Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features

Exome sequencing identifies three novel candidate genes implicated in intellectual disability

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

Huh-7 cell line as an alternative cultural model for the production of human like erythropoietin (EPO).

Identifying genes responsible for intellectual disability in consanguineous families

Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia

Missense mutations in DYT-TOR1A dystonia

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.

Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies

Novel UCHL1 mutations reveal new insights into ubiquitin processing

Rare variants in dementia genes and Parkinson's disease

TMEM230 variants in Parkinson's disease.

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia

Targeted next generation sequencing reveals a novel intragenic deletion of the TPO gene in a family with intellectual disability