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PIK3R1 mutations in SHORT syndrome

Clinical genetics, 2014-09, Vol.86 (3), p.292-294

2014

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High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease

Journal of medical genetics, 2008-11, Vol.45 (11), p.704-709

2008

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A clinical and molecular genetic study of 112 Iranian families with primary microcephaly

Journal of medical genetics, 2010-12, Vol.47 (12), p.823-828

2010

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Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34

Clinical genetics, 2014-05, Vol.85 (5), p.498-499

2014

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Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome

Clinical genetics, 2010-06, Vol.77 (6), p.541-551

2010

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Novel SLC9A6 mutations in two families with Christianson syndrome

Clinical genetics, 2013-06, Vol.83 (6), p.596-597

2013

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Parental Origin of de novo Cytogenetically Balanced Reciprocal Non-Robertsonian Translocations

Cytogenetic and genome research, 2012-06, Vol.136 (4), p.242-245

2012

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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Molecular psychiatry, 2016-01, Vol.21 (1), p.133-148

2016

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Alopecia-mental retardation syndrome: clinical and molecular characterization of four patients

British journal of dermatology (1951), 2008-09, Vol.159 (3), p.748-751

2008

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Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

Human mutation, 2008-10, Vol.29 (10), p.1237-1246

2008

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Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation

Human genetics, 2007-05, Vol.121 (3-4), p.501-509

2007

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Cohen syndrome diagnosis using whole genome arrays

Journal of medical genetics, 2011-02, Vol.48 (2), p.136-140

2011

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Hypergonadotropic hypogonadism in a patient with inv ins (2;4)

International journal of andrology, 2009-06, Vol.32 (3), p.226-230

2009

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ABSENCE OF Yq MICRODELETIONS IN INFERTILE MEN

Archives of andrology, 2001, Vol.47 (3), p.167-171

2001

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SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

Human genetics, 2006-02, Vol.118 (6), p.708-715

2006

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Radiation-Induced Late Effects in Two Affected Individuals of the Lilo Radiation Accident

Radiation research, 2007-05, Vol.167 (5), p.615-623

2007

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Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences

American journal of medical genetics. Part A, 2006-03, Vol.140A (5), p.496-502

2006

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Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris

Clinical genetics, 2006-02, Vol.69 (2), p.189-193

2006

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The molecular and phenotypic spectrum of IQSEC2‐related epilepsy

Epilepsia (Copenhagen), 2016-11, Vol.57 (11), p.1858-1869

2016

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Genetics of intellectual disability in consanguineous families

Molecular psychiatry, 2019-07, Vol.24 (7), p.1027-1039

2019

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Deep clinical phenotyping of patients with obsessive-compulsive disorder: an approach towards detection of organic causes and first results

Translational psychiatry, 2023-03, Vol.13 (1), p.83-18, Article 83

2023

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New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel CACNA1C Loss-Of-Function Mutation

International journal of molecular sciences, 2020-11, Vol.21 (22), p.8611

2020

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Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation

Genes, 2021-11, Vol.12 (11), p.1836

2021

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STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy

Neurology, 2016-03, Vol.86 (10), p.954-962

2016

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Next-generation sequencing in X-linked intellectual disability

European journal of human genetics : EJHG, 2015-11, Vol.23 (11), p.1513-1518

2015

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PIK3R1 mutations in SHORT syndrome

High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly

Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34

Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome

Novel SLC9A6 mutations in two families with Christianson syndrome

Parental Origin of de novo Cytogenetically Balanced Reciprocal Non-Robertsonian Translocations

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Alopecia-mental retardation syndrome: clinical and molecular characterization of four patients

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation

Cohen syndrome diagnosis using whole genome arrays

Hypergonadotropic hypogonadism in a patient with inv ins (2;4)

ABSENCE OF Yq MICRODELETIONS IN INFERTILE MEN

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

Radiation-Induced Late Effects in Two Affected Individuals of the Lilo Radiation Accident

Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences

Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris

The molecular and phenotypic spectrum of IQSEC2‐related epilepsy

Genetics of intellectual disability in consanguineous families

Deep clinical phenotyping of patients with obsessive-compulsive disorder: an approach towards detection of organic causes and first results

New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel CACNA1C Loss-Of-Function Mutation

Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy

Next-generation sequencing in X-linked intellectual disability

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