Laboratoire de Génétique Médicale - LGM - UMRS1112

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Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype
Neural tube defects: the experience of the registry of congenital malformations of Alsace, France, 1995-2009
A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta
Next generation sequencing for molecular diagnosis of neuromuscular diseases
A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family.

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