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Human Mutation|January 1, 1996
Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosisP Maillet, N Alloisio, L Morlé, et al.Human Mutation|January 1, 1996
Mutation pattern in clinically asymptomatic coagulation factor VII deficiencyF Bernardi, G Castaman, M Pinotti, et al.Human Mutation|May 20, 2008
Red hair is the null phenotype of MC1RKimberley A Beaumont, Sri N Shekar, Anthony L Cook, et al.Human Mutation|May 20, 2008
Does proximal myotonic myopathy show anticipation?Bernd Kruse, Doris Wöhrle, Peter Steinbach, et al.Human Mutation|May 20, 2008
Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patientsJeyabalan Nallathambi, Paul Laissue, Frank Batista, et al.Human Mutation|April 11, 2008
Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson diseaseVeerle Bogaerts, Karen Nuytemans, Joke Reumers, et al.Human Mutation|April 30, 2008
Mutations in human monoamine-related neurotransmitter pathway genesJan Haavik, Nenad Blau, Beat ThönyHuman Mutation|May 1, 2008
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutationsNicole Revencu, Laurence M Boon, John B Mulliken, et al.Human Mutation|May 2, 2008
Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage diseaseJanice Y Chou, Brian C MansfieldHuman Mutation|May 2, 2008
Evaluation of in silico splice tools for decision-making in molecular diagnosisClaude Houdayer, Catherine Dehainault, Christophe Mattler, et al.Pageof 583