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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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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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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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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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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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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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Genetik der nichtsyndromalen geistigen Behinderung

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

Tzschach, A.

2009

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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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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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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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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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Identifying organic causes of obsessive-compulsive disorder (OCD): The Freiburg-Diagnostic-Protocol for patients with OCD (FDP-OCD)

Neuroscience Applied, 2023, Vol.2, p.103531, Article 103531

2023

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Crystal and molecular structure of 1-aza-5-stanna-5-chlorotricyclo[3.3.3.0 1,5]undecane, a 2,8,9-tricarbastannatrane

Journal of organometallic chemistry, 1985-01, Vol.290 (3), p.285-289

1985

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Reactivity and crystal and molecular structure of 5-phenyl-5-phospha-2,8-dithia-1-stanna(II)bicyclo[3.3.o 1,5]octane

Journal of organometallic chemistry, 1986-04, Vol.304 (1), p.107-114

1986

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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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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

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

Mirror-Image Asymmetry in Monozygotic Twins with Kabuki Syndrome

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

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

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

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

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

Genetik der nichtsyndromalen geistigen Behinderung

Cohen syndrome diagnosis using whole genome arrays

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

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]

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

Identifying organic causes of obsessive-compulsive disorder (OCD): The Freiburg-Diagnostic-Protocol for patients with OCD (FDP-OCD)

Crystal and molecular structure of 1-aza-5-stanna-5-chlorotricyclo[3.3.3.0 1,5]undecane, a 2,8,9-tricarbastannatrane

Reactivity and crystal and molecular structure of 5-phenyl-5-phospha-2,8-dithia-1-stanna(II)bicyclo[3.3.o 1,5]octane

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)

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