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
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.
A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome

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