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Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification

Human genetics, 2003-12, Vol.114 (1), p.51-67

2003

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Shprintzen-Goldberg syndrome: Fourteen new patients and a clinical analysis

American journal of medical genetics. Part A, 2005-06, Vol.135A (3), p.251-262

2005

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Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification

European journal of medical genetics, 2005-10, Vol.48 (4), p.397-411

2005

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New Mutations of EXT1 and EXT2 Genes in German Patients with Multiple Osteochondromas

Annals of human genetics, 2009-05, Vol.73 (3), p.283-291

2009

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Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia

Journal of neurology, 2006-08, Vol.253 (8), p.1111-1112

2006

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Mutational Analysis of the SOX9 Gene in Campomelic Dysplasia and Autosomal Sex Reversal: Lack of Genotype/Phenotype Correlations

Human molecular genetics, 1997-01, Vol.6 (1), p.91-98

1997

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Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33

American journal of medical genetics, 2004-08, Vol.128A (4), p.364-373

2004

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Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome

American journal of human genetics, 1999-02, Vol.64 (2), p.435-445

1999

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First patient with trisomy 21 accompanied by an additional der(4)(:p11 → q11:) plus partial uniparental disomy 4p15-16

American journal of medical genetics, 2003-01, Vol.116A (1), p.26-30

2003

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First postnatal case of mosaic del(22)/r(22)

Prenatal diagnosis, 2003-09, Vol.23 (9), p.765-767

2003

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Small supernumerary marker chromosomes (SMCs): fenotype-phenotype correlation and classification

Human genetics, 2003, Vol.114 (1), p.51-67

2003

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Epidemiological data on Werdnig-Hoffmann disease in Germany (West-Thüringen)

Human genetics, 1993-04, Vol.91 (3), p.295-297

1993

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Xp-duplications with and without sex reversal

Human genetics, 1996, Vol.97 (1), p.79-86

1996

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Incidental prenatal detection of an Xp deletion using an anonymous primer pair for fetal sexing

Prenatal diagnosis, 2000-10, Vol.20 (10), p.842-846

2000

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Chronic childhood spinal muscular atrophy in Germany (West-Tübingen) : an epidemiological study

Human genetics, 1994-03, Vol.93 (3), p.344-346

1994

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"Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene

American journal of medical genetics, 2002-03, Vol.108 (3), p.177-181

2002

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Shprintzen-goldberg syndrome : Fourteen new patients and a clinical analysis

American journal of medical genetics, 2005, Vol.135A (3), p.251-262

2005

Volltextzugriff (PDF)

First postnatal case of mosaic del(22)/r(22)

Prenatal diagnosis, 2003, Vol.23 (9), p.765-767

2003

Volltextzugriff (PDF)

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Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification

Shprintzen-Goldberg syndrome: Fourteen new patients and a clinical analysis

Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification

New Mutations of EXT1 and EXT2 Genes in German Patients with Multiple Osteochondromas

Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia

Mutational Analysis of the SOX9 Gene in Campomelic Dysplasia and Autosomal Sex Reversal: Lack of Genotype/Phenotype Correlations

Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33

Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome

First patient with trisomy 21 accompanied by an additional der(4)(:p11 → q11:) plus partial uniparental disomy 4p15-16

First postnatal case of mosaic del(22)/r(22)

Small supernumerary marker chromosomes (SMCs): fenotype-phenotype correlation and classification

Epidemiological data on Werdnig-Hoffmann disease in Germany (West-Thüringen)

Xp-duplications with and without sex reversal

Incidental prenatal detection of an Xp deletion using an anonymous primer pair for fetal sexing

Chronic childhood spinal muscular atrophy in Germany (West-Tübingen) : an epidemiological study

"Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene

Shprintzen-goldberg syndrome : Fourteen new patients and a clinical analysis

First postnatal case of mosaic del(22)/r(22)

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