H
H Seidel
Researcher at Loyola Marymount University
Publications - 2
Citations - 1089
H Seidel is an academic researcher from Loyola Marymount University. The author has contributed to research in topics: Gene & Exome sequencing. The author has an hindex of 1, co-authored 1 publications receiving 1033 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 ArticleDOI
There is more to it than just congenital heart defects – The phenotypic spectrum of TAB2-related syndrome
Dominik S. Westphal,Elisa Mastantuono,H Seidel,Korbinian M. Riedhammer,Andreas Hahn,Katharina Vill,Matias Wagner +6 more
TL;DR: In this paper , the authors identified three cases with syndromic CHD caused by different heterozygous loss-of-function variants in TAB2 and one of these cases was inherited by a healthy father.