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PIK3R1 mutations in SHORT syndrome

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

2014

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PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome

European journal of medical genetics, 2019-12, Vol.62 (12), p.103587-103587, Article 103587

2019

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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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Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome)

Clinical genetics, 2013-01, Vol.83 (1), p.92-95

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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Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

American journal of human genetics, 2005-02, Vol.76 (2), p.227-236

2005

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A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation

American journal of human genetics, 2008-05, Vol.82 (5), p.1158-1164

2008

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CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

Orphanet journal of rare diseases, 2014-05, Vol.9 (1), p.74-74, Article 74

2014

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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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Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion

American journal of medical genetics. Part A, 2006-05, Vol.140A (10), p.1108-1110

2006

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Molecular breakpoint analysis and relevance of variable mosaicism in a woman with short stature, primary amenorrhea, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype

American journal of medical genetics, 2002-09, Vol.112 (1), p.51-55

2002

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PIK3R1 mutations in SHORT syndrome

PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij 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

Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner 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

Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

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

Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion

Molecular breakpoint analysis and relevance of variable mosaicism in a woman with short stature, primary amenorrhea, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype

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