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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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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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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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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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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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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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Mössbauer spectroscopic investigations of intra- and intermolecularly coordinated organotin compounds

Inorganica Chimica Acta, 1991-01, Vol.179 (1), p.83-88

1991

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Synthesis, crystal and molecular structure of O[Si(CH 2CH 2CH 2) 3N] 2, an oxygen-bridged bis(tricarbasilatrane)

Journal of organometallic chemistry, 1986-12, Vol.317 (2), p.145-151

1986

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Arsen‐organo‐Verbindungen. II. Zur Synthese der Dialkylamino‐dialkylarsine sowie der Dialkylarsine

Zeitschrift für anorganische und allgemeine Chemie (1950), 1964-01, Vol.326 (5-6), p.280-287

1964

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Next-generation sequencing in X-linked intellectual disability

European journal of human genetics : EJHG, 2015-02, Vol.23 (11), p.1513-1518

2015

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Diagnostic value of partial exome sequencing in developmental disorders

PloS one, 2018-08, Vol.13 (8), p.e0201041-e0201041

2018

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Musculoskeletal Disease in MDA5‐Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy

Arthritis & rheumatology (Hoboken, N.J.), 2017-10, Vol.69 (10), p.2081-2091

2017

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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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A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability

American journal of human genetics, 2012-10, Vol.91 (4), p.694-702

2012

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ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions

American journal of human genetics, 2011-09, Vol.89 (3), p.407-414

2011

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Mapping translocation breakpoints by next-generation sequencing

Genome Research, 2008-07, Vol.18 (7), p.1143-1149

2008

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Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

American journal of human genetics, 2011-07, Vol.89 (1), p.176-182

2011

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KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum

Annals of clinical and translational neurology, 2019-07, Vol.6 (7), p.1319-1326

2019

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A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome

Human genetics, 2006-09, Vol.120 (2), p.171-178

2006

Volltextzugriff (PDF)

A novel nonsense mutation in TUSC3 is responsible for non‐syndromic autosomal recessive mental retardation in a consanguineous Iranian family

American journal of medical genetics. Part A, 2011-08, Vol.155 (8), p.1976-1980

2011

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Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities?

American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.94-102

2016

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X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

Orphanet journal of rare diseases, 2013-09, Vol.8 (1), p.146-146, Article 146

2013

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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

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

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

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

Pentacoordinated tetraorganotin and silicon compounds - synthesis and structures

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

Mössbauer spectroscopic investigations of intra- and intermolecularly coordinated organotin compounds

Synthesis, crystal and molecular structure of O[Si(CH 2CH 2CH 2) 3N] 2, an oxygen-bridged bis(tricarbasilatrane)

Arsen‐organo‐Verbindungen. II. Zur Synthese der Dialkylamino‐dialkylarsine sowie der Dialkylarsine

Next-generation sequencing in X-linked intellectual disability

Diagnostic value of partial exome sequencing in developmental disorders

Musculoskeletal Disease in MDA5‐Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy

The molecular and phenotypic spectrum of IQSEC2‐related epilepsy

Genetics of intellectual disability in consanguineous families

A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability

ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions

Mapping translocation breakpoints by next-generation sequencing

Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome

A novel nonsense mutation in TUSC3 is responsible for non‐syndromic autosomal recessive mental retardation in a consanguineous Iranian family

Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities?

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

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