O Lekarev, Y Morel… - Hormonal and Genetic Basis of …, 2011 - books.google.com Chapter 29 Atypical Presentation and Novel StAR Protein Gene Mutation in a 46, XY Female with Lipoid Congenital Adrenal Hyperplasia Oksana Lekarev, Yves Morel, and Maria I. New Introduction Congenital lipoid adrenal hyperplasia is a severe disorder of adrenal and gonadal ... All 2 versions
[HTML] from nih.govN Zwaveling-Soonawala, EE Hagebeuk… - Diabetologia, 2011 - Springer ... (DEND) syndrome and a novel ABCC8 genemutation... The KCNJ11 sequence was wild type. In exon 1 of the ABCC8 gene a monoallelic missense mutation was present (c.145A>T) that changed amino acid residue 49 from isoleucine to phenylalanine (p. I49F). ... Related articles - All 5 versions
[PDF] from peerproject.euH Kehrer-Sawatzki, J Vogt, J Kohlhase, S Kastler… - 2011 - repository.peerproject.eu For Peer Review Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation... Date Submitted by the Author: 02-Feb-2011 ... Complete List of Authors: Vogt, Julia; University of Ulm, Human Genetics Kohlhase, Juergen; Center for ...
C Ciccacci, M Falconi, N Paolillo… - Pharmacogenetics …, 2011 - journals.lww.com Warfarin (coumadin) is a worldwide-prescribed anticoagulant for the long-term treatment and prevention of thromboembolic events, presenting a great interindividual variability in the required dose. It is known that both environmental and genetic factors influence the dose ... Related articles - All 4 versions
AK Win, JG Dowty, YC Antill… - Obstetrics & …, 2011 - journals.lww.com From the Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, The University of Melbourne, Parkville, Victoria, Australia; the Familial Cancer Centre, Southern Health, Victoria, Australia; the Cancer Epidemiology Centre, Cancer Council Victoria, Victoria, ... Related articles - All 4 versions
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