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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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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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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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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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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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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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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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Crystal structure of pentacarbonyl-5-phenyl-5-phospha-2,8-dithia-1-stannabicyclo[3.3.0 1,5]octanechromium(0)·pyridine

Journal of organometallic chemistry, 1988-07, Vol.349 (1), p.143-147

1988

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Homozygosity mapping in consanguineous families reveals extreme heterogeneity of nonsyndromic autosomal recessive mental retardation and identifies 8 novel gene loci

Human genetics, 2007-03, Vol.121 (1), p.43-48

2007

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Crystal and molecular structure of 5-t-butyl-5-aza-2,8-dithia-1-stanna(II)bicyclo[3.3.0 1,5]octane. Identification of two different geometries along the dissociation-inversion pathway

Journal of organometallic chemistry, 1985-02, Vol.281 (2), p.173-180

1985

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Synthesis, spectroscopic investigation and molecular structure of pentacarbonyl-5-t-butyl-5-aza-2,8-dithia-1-stannobicyclo[3.3.0 1,5]octanechromium(0)

Journal of organometallic chemistry, 1983-12, Vol.259 (2), p.165-170

1983

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1-Aza-5-stanna-5,5-dimethylbicyclo[3.3.0 1,5] octan und 1-aza-5-stanna-5-methyltricyclo[3.3.3.0 1,5] undecan, pentakoordinierte tetraorganozinnverbindungen

Journal of organometallic chemistry, 1984-08, Vol.272 (1), p.C13-C16

1984

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Organoarsen-verbindungen: XXXIII. Synthese und reaktionsverhalten der α-aminomethylphosphine und -arsine

Journal of organometallic chemistry, 1978-04, Vol.149 (2), p.167-176

1978

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Organoarsen-verbindungen XIII. Zur synthese der 1,3-azarsolidine

Journal of organometallic chemistry, 1970, Vol.21 (1), p.131-137

1970

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[4+2]-cycloadditionen der der 1,3-benz-oxaphosphole bzw. -Arsole mit dimethylbutadien und tetrachlorbenzochinon

Tetrahedron letters, 1983, Vol.24 (49), p.5481-5484

1983

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1,3-carbanionische umlagerungen: Reaktionen von phosphorsäure- o-haloarylestern mit metallen zu arylphosphonsäurederivaten

Journal of organometallic chemistry, 1986-12, Vol.317 (1), p.11-21

1986

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

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

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

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

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

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

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

Crystal structure of pentacarbonyl-5-phenyl-5-phospha-2,8-dithia-1-stannabicyclo[3.3.0 1,5]octanechromium(0)·pyridine

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of nonsyndromic autosomal recessive mental retardation and identifies 8 novel gene loci

Crystal and molecular structure of 5-t-butyl-5-aza-2,8-dithia-1-stanna(II)bicyclo[3.3.0 1,5]octane. Identification of two different geometries along the dissociation-inversion pathway

Synthesis, spectroscopic investigation and molecular structure of pentacarbonyl-5-t-butyl-5-aza-2,8-dithia-1-stannobicyclo[3.3.0 1,5]octanechromium(0)

1-Aza-5-stanna-5,5-dimethylbicyclo[3.3.0 1,5] octan und 1-aza-5-stanna-5-methyltricyclo[3.3.3.0 1,5] undecan, pentakoordinierte tetraorganozinnverbindungen

Organoarsen-verbindungen: XXXIII. Synthese und reaktionsverhalten der α-aminomethylphosphine und -arsine

Organoarsen-verbindungen XIII. Zur synthese der 1,3-azarsolidine

[4+2]-cycloadditionen der der 1,3-benz-oxaphosphole bzw. -Arsole mit dimethylbutadien und tetrachlorbenzochinon

1,3-carbanionische umlagerungen: Reaktionen von phosphorsäure- o-haloarylestern mit metallen zu arylphosphonsäurederivaten

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