H
H Oechsler
Researcher at Technische Universität München
Publications - 2
Citations - 1118
H Oechsler is an academic researcher from Technische Universität München. The author has contributed to research in topics: DiGeorge syndrome & Monosomy. The author has an hindex of 2, co-authored 2 publications receiving 1063 citations.
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Journal ArticleDOI
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
A K Ryan,Judith A. Goodship,D I Wilson,Nicole Philip,A. Levy,H Seidel,S Schuffenhauer,H Oechsler,B Belohradsky,M Prieur,Alain Aurias,F L Raymond,Jill Clayton-Smith,E Hatchwell,C McKeown,Frits A. Beemer,Bruno Dallapiccola,Giuseppe Novelli,Jane A. Hurst,J Ignatius,A J Green,Robin M. Winter,Louise Brueton,Karen Brøndum-Nielsen,Peter J. Scambler +24 more
TL;DR: The majority of patients were constitutionally small, with 36% of patients below the 3rd centile for either height or weight parameters, and the majority of surviving patients were developmentally normal or had only mild learning problems.
Journal Article
DiGeorge syndrome and partial monosomy 10p: case report and review.
Simone Schuffenhauer,Heide Seidel,H Oechsler,Bernd H. Belohradsky,U Bernsau,Jan Murken,Thomas Meitinger +6 more
TL;DR: The authors describe a 20 months old girl with DGS and a monosomy 10p bringing the number of DGS patients with this chromosomal abnormality to nine, and the proposita's phenotype demonstrates typical features of the del (10p) syndrome.