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Kamel Mamchaoui
Kamel Mamchaoui
French Institute of Health and Medical Research
Biology
Genetics
Congenital myopathy
Missense mutation
Compound heterozygosity
2
Papers
46
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Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein
2015
Journal of neuromuscular diseases
Marine Cacheux
Ariane Blum
Muriel Sébastien
Anne Sophie Wozny
Julie Brocard
Kamel Mamchaoui
Vincent Mouly
N. Roux-Buisson
John Rendu
Nicole Monnier
Renée Krivosic
Paul D. Allen
Arnaud Lacour
Joël Lunardi
Julien Fauré
Isabelle Marty
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Citations (10)
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation
2011
European Journal of Human Genetics
Rabah Ben Yaou
Claire Navarro
Susana Quijano-Roy
Anne T. Bertrand
Catherine Massart
Annachiara De Sandre-Giovannoli
Juan Cadiñanos
Kamel Mamchaoui
Gillian Butler-Browne
Brigitte Estournet
Pascale Richard
A. Barois
Nicolas Lévy
Gisèle Bonne
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Citations (36)
1