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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 gene mutation ... 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). ...
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[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 ...
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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, ...
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