Lista de obras -

A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin

artículo científico publicado en 2015

A patient with abdominal pain, vomiting and splenomegaly

scientific article published on 01 June 2006

Antiphospholipid syndrome and cancer

artículo científico publicado en 2007

Arterial tortuosity in patients withFilamin A- associated vascular aneurysms

artículo científico publicado en 2014

Atrophic Skin Patches With Abnormal Elastic Fibers as a Presenting Sign of the MASS Phenotype Associated With Mutation in the Fibrillin 1 Gene

article

Autoimmunity and mast cell-related diseases

artículo científico publicado en 2008

Axial spondylometaphyseal dysplasia with retinitis pigmentosa—a clinical report and diagnostic clues ⬇️

artículo científico publicado el 31 de enero de 2013

Challenges of using next generation sequencing in newborn screening

scientific article published on 02 November 2015

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

artículo científico publicado en 2016

Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study ⬇️

artículo científico publicado el 29 de agosto de 2012

Darier's disease

artículo científico publicado en 2006

Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants

artículo científico publicado en 2020

Early‐onset osteoarthritis in Ehlers–Danlos syndrome type VIII ⬇️

artículo científico publicado el 14 de marzo de 2012

Echocardiographic findings in patients with spontaneous CSF leak

artículo científico publicado en 2014

Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features

artículo científico publicado en 2012

Ehlers-Danlos type VIII, periodontitis-type: Further delineation of the syndrome in a four-generation pedigree ⬇️

artículo científico publicado el 15 de marzo de 2011

Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy.

artículo científico publicado en 2016

Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotype.

artículo científico publicado en 2016

Familial Occurrence of Atrioventricular Nodal Reentrant Tachycardia

artículo científico publicado en 2017

Filamin Amutation associated with normal reading skills and dyslexia in a family with periventricular heterotopia

artículo científico publicado en 2012

Immunologic aspects of protein degradation by the ubiquitin-proteasome system.

artículo científico publicado en 2004

Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing

artículo científico publicado en 2016

More than meets the eye: The evolving phenotype of Weill–Marchesani syndrome—diagnostic confusion with geleophysic dysplasia ⬇️

artículo científico publicado el 16 de agosto de 2013

Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type.

artículo científico publicado en 2017

Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia

artículo científico publicado en 2015

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

artículo científico publicado en 2018

Narrative review: protein degradation and human diseases: the ubiquitin connection

artículo científico publicado en 2006

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

artículo científico publicado en 2016

Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing.

artículo científico publicado en 2017

Recurrent compartment syndrome in a patient with clinical features of a connective tissue disorder ⬇️

artículo científico publicado el 30 de abril de 2013

Schizophrenia and Nail Patella Syndrome: The Dopamine Connection

scientific article published on 01 August 2018

Terminal microdeletions of 13q34 chromosome region in patients with intellectual disability: Delineation of an emerging new microdeletion syndrome

artículo científico publicado en 2016

The 2017 international classification of the Ehlers-Danlos syndromes

artículo científico publicado en 2017

The association between maternal serum first trimester free βhCG, second trimester intact hCG levels and foetal growth restriction and preeclampsia

artículo científico publicado en 2018

The yield of chromosomal microarray analysis among pregnancies terminated due to fetal malformations

scientific article published on 23 January 2020

UTILIZATION OF WHOLE EXOME SEQUENCING IN DIAGNOSTICS OF GENETIC DISEASE: RABIN MEDICAL CENTER'S EXPERIENCE

artículo científico publicado en 2017

Ubiquitin wins Nobel

artículo científico publicado en 2006

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A ⬇️

artículo científico publicado el 3 de octubre de 2012

Visceroptosis of the bowel in the hypermobility type of Ehlers–Danlos syndrome: Presentation of a rare manifestation and review of the literature ⬇️

artículo científico publicado el 7 de julio de 2012

[The ubiquitin system for intracellular protein degradation--involvement in human pathologies and therapeutic implications]

scientific article published on 01 August 2004

Lista de obras de

A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin

A patient with abdominal pain, vomiting and splenomegaly

Antiphospholipid syndrome and cancer

Arterial tortuosity in patients withFilamin A- associated vascular aneurysms

Atrophic Skin Patches With Abnormal Elastic Fibers as a Presenting Sign of the MASS Phenotype Associated With Mutation in the Fibrillin 1 Gene

Autoimmunity and mast cell-related diseases

Axial spondylometaphyseal dysplasia with retinitis pigmentosa—a clinical report and diagnostic clues ⬇️

Challenges of using next generation sequencing in newborn screening

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study ⬇️

Darier's disease

Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants

Early‐onset osteoarthritis in Ehlers–Danlos syndrome type VIII ⬇️

Echocardiographic findings in patients with spontaneous CSF leak

Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features

Ehlers-Danlos type VIII, periodontitis-type: Further delineation of the syndrome in a four-generation pedigree ⬇️

Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy.

Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotype.

Familial Occurrence of Atrioventricular Nodal Reentrant Tachycardia

Filamin Amutation associated with normal reading skills and dyslexia in a family with periventricular heterotopia

Immunologic aspects of protein degradation by the ubiquitin-proteasome system.

Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing

More than meets the eye: The evolving phenotype of Weill–Marchesani syndrome—diagnostic confusion with geleophysic dysplasia ⬇️

Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type.

Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

Narrative review: protein degradation and human diseases: the ubiquitin connection

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing.

Recurrent compartment syndrome in a patient with clinical features of a connective tissue disorder ⬇️

Schizophrenia and Nail Patella Syndrome: The Dopamine Connection

Terminal microdeletions of 13q34 chromosome region in patients with intellectual disability: Delineation of an emerging new microdeletion syndrome

The 2017 international classification of the Ehlers-Danlos syndromes

The association between maternal serum first trimester free βhCG, second trimester intact hCG levels and foetal growth restriction and preeclampsia

The yield of chromosomal microarray analysis among pregnancies terminated due to fetal malformations

UTILIZATION OF WHOLE EXOME SEQUENCING IN DIAGNOSTICS OF GENETIC DISEASE: RABIN MEDICAL CENTER'S EXPERIENCE

Ubiquitin wins Nobel

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A ⬇️

Visceroptosis of the bowel in the hypermobility type of Ehlers–Danlos syndrome: Presentation of a rare manifestation and review of the literature ⬇️

[The ubiquitin system for intracellular protein degradation--involvement in human pathologies and therapeutic implications]