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The Undiagnosed Diseases Network International: Five years and more

Molecular genetics and metabolism, 2020-04, Vol.129 (4), p.243-254

2020

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Calpain-mediated ataxin-3 cleavage in the molecular pathogenesis of spinocerebellar ataxia type 3 (SCA3)

Human molecular genetics, 2013-02, Vol.22 (3), p.508-518

2013

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Specific transcriptional changes in human fetuses with autosomal trisomies

Cytogenetic and genome research, 2007-01, Vol.119 (3-4), p.171-184

2007

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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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Recommendations for whole genome sequencing in diagnostics for rare diseases

European journal of human genetics : EJHG, 2022-09, Vol.30 (9), p.1017-1021

2022

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Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS)

Journal of medical genetics, 2000-10, Vol.37 (10), p.798-804

2000

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Towards a European health research and innovation cloud (HRIC)

Genome medicine, 2020-02, Vol.12 (1), p.18-14, Article 18

2020

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Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease

Nature genetics, 1998-02, Vol.18 (2), p.106-108

1998

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B-Raf and Ha-ras mutations in chemically induced mouse liver tumors

Oncogene, 2005-02, Vol.24 (7), p.1290-1295

2005

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Characterization of the rat spinocerebellar ataxia type 3 gene

Neurogenetics, 1997-11, Vol.1 (2), p.103-112

1997

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Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia

European journal of human genetics : EJHG, 2001-03, Vol.9 (3), p.160-164

2001

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Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion

European journal of human genetics : EJHG, 2000-07, Vol.8 (7), p.519-526

2000

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Human Txk: genomic organization, structure and contiguous physical linkage with the Tec gene

Oncogene, 1996-02, Vol.12 (4), p.937-942

1996

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The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis

Molecular genetics and metabolism, 2005-05, Vol.85 (1), p.12-20

2005

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Genetic investigation of the TSPYL1 gene in sudden infant death syndrome

Genetics in medicine, 2006-01, Vol.8 (1), p.55-58

2006

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The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa

American journal of human genetics, 1992-10, Vol.51 (4), p.755-762

1992

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Characterization of a human chromosome 4 flow-sorted cosmid library

Cytogenetic and genome research, 1994-01, Vol.65 (4), p.238-242

1994

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Linkage disequilibrium between RFLP haplotype 2 and the affected PAH allele in PKU families from the Berlin area of the German Democratic Republic

Human genetics, 1988-04, Vol.78 (4), p.343-346

1988

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Characterization of a cosmid library from flow-sorted chromosomes 11

Chromosome research, 1994-05, Vol.2 (3), p.201-207

1994

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Cloning, sequencing and functional studies of the gene encoding human GTP cyclohydrolase I

Gene, 1996-06, Vol.171 (2), p.285-290

1996

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Exonic variants of the GABA(B) receptor gene and panic disorder

Psychiatric genetics, 2000-12, Vol.10 (4), p.191

2000

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The human β-subunit of rod photoreceptor cGMP phosphodiesterase: Complete retinal cDNA sequence and evidence for expression in brain

Genomics (San Diego, Calif.), 1992-07, Vol.13 (3), p.698-704

1992

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Toward the complete genomic map and molecular pathology of human chromosome 4

Human genetics, 1994-07, Vol.94 (1), p.1-18

1994

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Improved PCR conditions for the stretch of (CAG)n repeats causing Huntington's disease

Human molecular genetics, 1993-09, Vol.2 (9), p.1523-1523

1993

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Hypervariability of intronic simple (gt)n(ga)m repeats in HLA-DRB genes

Immunogenetics (New York), 1990-08, Vol.32 (2), p.110-116

1990

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The Undiagnosed Diseases Network International: Five years and more

Calpain-mediated ataxin-3 cleavage in the molecular pathogenesis of spinocerebellar ataxia type 3 (SCA3)

Specific transcriptional changes in human fetuses with autosomal trisomies

Mirror-Image Asymmetry in Monozygotic Twins with Kabuki Syndrome

Recommendations for whole genome sequencing in diagnostics for rare diseases

Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS)

Towards a European health research and innovation cloud (HRIC)

Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease

B-Raf and Ha-ras mutations in chemically induced mouse liver tumors

Characterization of the rat spinocerebellar ataxia type 3 gene

Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia

Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion

Human Txk: genomic organization, structure and contiguous physical linkage with the Tec gene

The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis

Genetic investigation of the TSPYL1 gene in sudden infant death syndrome

The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa

Characterization of a human chromosome 4 flow-sorted cosmid library

Linkage disequilibrium between RFLP haplotype 2 and the affected PAH allele in PKU families from the Berlin area of the German Democratic Republic

Characterization of a cosmid library from flow-sorted chromosomes 11

Cloning, sequencing and functional studies of the gene encoding human GTP cyclohydrolase I

Exonic variants of the GABA(B) receptor gene and panic disorder

The human β-subunit of rod photoreceptor cGMP phosphodiesterase: Complete retinal cDNA sequence and evidence for expression in brain

Toward the complete genomic map and molecular pathology of human chromosome 4

Improved PCR conditions for the stretch of (CAG)n repeats causing Huntington's disease

Hypervariability of intronic simple (gt)n(ga)m repeats in HLA-DRB genes

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