Výsledky vyhledávání - "Birgit R. B. Schulze"

Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay

Autor: Michaela Brough, Monika Keller, Susanne Popp, Heidi Holtgreve-Grez, H. D. Hager, Lyndal Kearney, Brigitte Schoell, Birgit R. B. Schulze, Jill M. Brown, Anna Jauch, Gholamali Tariverdian, Martin Granzow

Publikováno v: Human genetics. 111(1)

Cryptic subtelomeric chromosome rearrangements are a major cause of mild to severe mental retardation pointing out the necessity of sensitive screening techniques to detect such aberrations among affected patients. In this prospective study a group o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3112a3a238eba7ebf8bb99329716d01e
https://pubmed.ncbi.nlm.nih.gov/12136233

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Misclassification risk of patients with bilateral cleft lip and palate and manifestations of median facial dysplasia: A new variant of del(22q11.2) syndrome?

Autor: Gerda Komposch, Gholamali Tariverdian, Angelika Stellzig, Birgit R. B. Schulze

Publikováno v: American journal of medical genetics. 99(4)

The generic term median facial dysplasia (MFD) describes a subgroup of patients with cleft lip and palate exhibiting characteristic craniofacial defects: (1) short prolabium, (2) absence of frenulum labii, (3) hypoplasia of premaxilla, (4) absent upp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c260ed2a0c9c925e99d4c9137a6bed19
https://pubmed.ncbi.nlm.nih.gov/11251993

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