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The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders

Clinical genetics, 2018-11, Vol.94 (5), p.450-456

2018

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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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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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Mirror-Image Asymmetry in Monozygotic Twins with Kabuki Syndrome

Molecular syndromology, 2012-08, Vol.3 (2), p.94-97

2012

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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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O09 Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S130-S130

2023

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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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Genetik der nichtsyndromalen geistigen Behinderung

Medizinische Genetik, 2009-07, Vol.21 (2), p.231-236

Tzschach, A.

2009

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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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Pentacoordinated tetraorganotin and silicon compounds - synthesis and structures

Pure and applied chemistry, 1986-01, Vol.58 (4), p.639-646

1986

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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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Genetik der nichtsyndromalen geistigen Behinderung

Medizinische Genetik, 2009-06, Vol.21 (2), p.231-236

Tzschach, A.

2009

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1,2-bis(organostannyl)ethanes as powerful bidentate Lewis acids. Crystal structures of (Ph 2ClSnCH 2) 2 · (Me 2N) 2PO and [Ph 3PNPPh 3][(Ph 2ClSnCH 2) 2 · Cl]

Journal of organometallic chemistry, 1990-05, Vol.388 (3), p.259-271

1990

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Alopeciamental retardation syndrome: clinical and molecular characterization of four patients

British journal of dermatology (1951), 2008-06, p.?-?

2008

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C-metallierung an phosphaaromaten - 2-lithio-1-methyl-1,3-benzazaphosphol

Tetrahedron letters, 1982, Vol.23 (36), p.3643-3646

1982

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A defect in the lonotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation

American journal of human genetics, 2007-10, Vol.81 (4), p.792-798

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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The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders

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

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

Mirror-Image Asymmetry in Monozygotic Twins with Kabuki Syndrome

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

O09 Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects

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

Genetik der nichtsyndromalen geistigen Behinderung

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)

Pentacoordinated tetraorganotin and silicon compounds - synthesis and structures

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

Genetik der nichtsyndromalen geistigen Behinderung

1,2-bis(organostannyl)ethanes as powerful bidentate Lewis acids. Crystal structures of (Ph 2ClSnCH 2) 2 · (Me 2N) 2PO and [Ph 3PNPPh 3][(Ph 2ClSnCH 2) 2 · Cl]

Alopeciamental retardation syndrome: clinical and molecular characterization of four patients

C-metallierung an phosphaaromaten - 2-lithio-1-methyl-1,3-benzazaphosphol

A defect in the lonotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation

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

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