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P016. Congenital ataxia, hemiplegic migraine due to a novel mutation of CACNA1A: a case report
Download from link.springer.comAlteredPLP1splicing causes hypomyelination of early myelinating structures
Download from doi.orgLMNA-associated myopathies: the Italian experience in a large cohort of patients
Download from doi.orgMEDNIK syndrome: A novel defect of copper metabolism treatable by zinc acetate therapy
Download from doi.orgPhenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders
Download from www.nature.comMutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
Download from www.nature.comNovelTMEM67mutations and genotype-phenotype correlates in meckelin-related ciliopathies
Download from dx.doi.orgExpanding CEP290 mutational spectrum in ciliopathies
Download from www.ncbi.nlm.nih.govMissing publications? Search for publications with a matching author name.