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Human Mutation|January 3, 2013
The CDC Hemophilia A Mutation Project (CHAMP) mutation list: a new online resourceAmanda B Payne, Connie H Miller, Fiona M Kelly, et al.
Human Mutation|January 3, 2013
Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensationNoriko Miyake, Shoji Yano, Chika Sakai, et al.
Human Mutation|January 15, 2013
A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfectaMichael Volodarsky, Barak Markus, Idan Cohen, et al.
Human Mutation|September 17, 2014
Identification of fragile X syndrome specific molecular markers in human fibroblasts: a useful model to test the efficacy of therapeutic drugsDaman Kumari, Aditi Bhattacharya, Jeffrey Nadel, et al.
Human Mutation|September 19, 2014
Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorderSeung-Hyun Bae, Nahid G Robertson, Hyun-Ju Cho, et al.
Human Mutation|September 9, 2014
Vanno: a visualization-aided variant annotation toolPo-Jung Huang, Chi-Ching Lee, Bertrand Chin-Ming Tan, et al.
Human Mutation|September 9, 2014
Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnosticsDiana Braunholz, Carolin Obieglo, Ilaria Parenti, et al.
Human Mutation|August 20, 2014
Instability of trinucleotidic repeats during chromatin remodeling in spermatidsOlivier Simard, Marie-Chantal Grégoire, Mélina Arguin, et al.
Human Mutation|June 19, 2013
HOXA2 haploinsufficiency in dominant bilateral microtia and hearing lossKerry K Brown, Lucas M Viana, Cecilia C Helwig, et al.
Human Mutation|June 21, 2013
Structure-function analysis of the human ferroportin iron exporter (SLC40A1): effect of hemochromatosis type 4 disease mutations and identification of critical residuesGérald Le Gac, Chandran Ka, Rozenn Joubrel, et al.
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