Résultats de la recherche

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Cockayne syndrome: the expanding clinical and mutational spectrum
Diagnostic et histoire naturelle de la dystrophie musculaire de Duchenne. [Diagnosis and natural history of Duchenne muscular dystrophy]
Epilepsie de l'enfant et de l'adulte. Partie 1 / Epilepsie de l'enfant. [Epilepsy in the child and in the adult. Part 1. Epilepsy in the child]
Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome
Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype
Regulatory interplay of Cockayne syndrome B ATPase and stress-response gene ATF3 following genotoxic stress
A possible cranio-oro-facial phenotype in Cockayne syndrome
Reducing dynamin 2 expression rescues X-linked centronuclear myopathy
A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome
Next generation sequencing for molecular diagnosis of neuromuscular diseases

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