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Georg Klaus Hinkel

Dresden University of Technology

30

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Body height in Turner's syndrome

2008 Clinical Genetics
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Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome

2005 European Journal of Human Genetics
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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.

2004 American Journal of Medical Genetics Part A
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Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

2004 European Journal of Human Genetics
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Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.

2003 European Journal of Human Genetics
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FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy

1999 European Journal of Human Genetics
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Isodizentrisches Extrachromosom 22q11 in einer Familie mit Hypoparathyreoidismus, sensorineuraler Schwerhörigkeit und Nierendysplasie

1998 Monatsschrift Kinderheilkunde
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A small deletion of 16q23.1-->16q24.2 [del(16)(q23.1q24.2).ish del(16)(q23.1q24.2)(D16S395+, D16S348-, P5432+)] in a boy with iris coloboma and minor anomalies.

1997 American Journal of Medical Genetics
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Übermäßiges Wachstum und Entwicklungsverzögerung assoziiert mit chromosomaler Deletion 22q13

1997 Monatsschrift Kinderheilkunde
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Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions on the short arm of chromosome 11

1996 American Journal of Human Genetics
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Citations (75)