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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
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The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients
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TMEM70 deficiency: long-term outcome of 48 patients
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Natural history of pulmonary function in collagen VI-related myopathies
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Novel TMEM67 mutations and genotype-phenotype correlates in Meckelin-related ciliopathies
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Expanding CEP290 mutational spectrum in ciliopathies