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Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype

Human genetics, 2017-03, Vol.136 (3), p.297-305

2017

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Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism

Human genetics, 2017-02, Vol.136 (2), p.179-192

2017

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Multi-periodic climate dynamics: spectral analysis of long-term instrumental and proxy temperature records

Climate of the past, 2013-02, Vol.9 (1), p.447-452

2013

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Large monochromator systems at PETRA III

Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment, 2011-09, Vol.649 (1), p.136-138

2011

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High temperature wear testing of a Ni-based superalloy pin on a cast iron disc

Materialwissenschaft und Werkstofftechnik, 2013-10, Vol.44 (10), p.825-831

2013

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PETRA III Special Optics

Journal of physics. Conference series, 2013-01, Vol.425 (5), p.52012-4

2013

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Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

Human genetics, 2013-08, Vol.132 (8), p.885-898

2013

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‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes

Human genetics, 2015-10, Vol.134 (10), p.1089-1097

2015

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Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

Nature genetics, 2000-01, Vol.24 (1), p.71-74

2000

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Tricho-Rhino-Phalangeal Syndrome with Supernumerary Teeth

Journal of dental research, 2008-11, Vol.87 (11), p.1027-1031

2008

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A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature

Molecular syndromology, 2012-11, Vol.3 (5), p.223-229

2012

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First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome

Molecular syndromology, 2012, Vol.2 (2), p.53-59

2012

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Nuclear interaction of the dynein light chain LC8a with the TRPS1 transcription factor suppresses the transcriptional repression activity of TRPS1

Human molecular genetics, 2003-06, Vol.12 (11), p.1349-1358

2003

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The RING Finger Protein RNF4, a Co-regulator of Transcription, Interacts with the TRPS1 Transcription Factor

The Journal of biological chemistry, 2003-10, Vol.278 (40), p.38780-38785

2003

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Characterization of a putative transcription factor gene expressed in the 20-OH-ecdysone inducible puff 74EF in Drosophila melanogaster

Nucleic acids research, 1989-06, Vol.17 (12), p.4455-4464

1989

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A familial case of tricho-rhino-phalangeal syndrome type III with a novel missense mutation in exon 6 of the TRPS1 gene

Journal of the European Academy of Dermatology and Venereology, 2010-05, Vol.24 (5), p.612-614

2010

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Microdissection of banded human chromosomes

Human genetics, 1990-05, Vol.84 (6), p.507-511

1990

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Cloning defined regions of the human genome by microdissection of banded chromosomes and enzymatic amplification

Nature (London), 1989-03, Vol.338 (6213), p.348-350

1989

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Expression of Trps1 during mouse embryonic development

Gene Expression Patterns, 2002-11, Vol.2 (1-2), p.119-122

2002

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Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer—Giedion syndrome

Human molecular genetics, 1995-01, Vol.4 (1), p.31-36

1995

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Construction and characterization of band-specific DNA libraries

Human genetics, 1990-05, Vol.84 (6), p.512-516

1990

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New markers for the neurofibromatosis-2 region generated by microdissection of chromosome 22

Genomics (San Diego, Calif.), 1991-07, Vol.10 (3), p.786-791

1991

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Genomic Organization and Promoter Structure of the Human EXT1 Gene

Genomics (San Diego, Calif.), 1997-03, Vol.40 (2), p.351-354

1997

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The EIF3S3 gene encoding the p40 subunit of the translation initiation factor eIF3 has eight exons and maps to the Langer-Giedion syndrome chromosome region on 8q24, but is not the TRPS1 gene

Human genetics, 1999-12, Vol.105 (6), p.662-664

1999

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The human protein kinase gene PKX1 on Xp22.3 displays Xp/Yp homology and is a site of chromosomal instability

Human molecular genetics, 1995-05, Vol.4 (5), p.869-878

1995

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Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism

Multi-periodic climate dynamics: spectral analysis of long-term instrumental and proxy temperature records

Large monochromator systems at PETRA III

High temperature wear testing of a Ni-based superalloy pin on a cast iron disc

PETRA III Special Optics

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes

Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

Tricho-Rhino-Phalangeal Syndrome with Supernumerary Teeth

A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature

First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome

Nuclear interaction of the dynein light chain LC8a with the TRPS1 transcription factor suppresses the transcriptional repression activity of TRPS1

The RING Finger Protein RNF4, a Co-regulator of Transcription, Interacts with the TRPS1 Transcription Factor

Characterization of a putative transcription factor gene expressed in the 20-OH-ecdysone inducible puff 74EF in Drosophila melanogaster

A familial case of tricho-rhino-phalangeal syndrome type III with a novel missense mutation in exon 6 of the TRPS1 gene

Microdissection of banded human chromosomes

Cloning defined regions of the human genome by microdissection of banded chromosomes and enzymatic amplification

Expression of Trps1 during mouse embryonic development

Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer—Giedion syndrome

Construction and characterization of band-specific DNA libraries

New markers for the neurofibromatosis-2 region generated by microdissection of chromosome 22

Genomic Organization and Promoter Structure of the Human EXT1 Gene

The EIF3S3 gene encoding the p40 subunit of the translation initiation factor eIF3 has eight exons and maps to the Langer-Giedion syndrome chromosome region on 8q24, but is not the TRPS1 gene

The human protein kinase gene PKX1 on Xp22.3 displays Xp/Yp homology and is a site of chromosomal instability

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