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Karger

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Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome

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John Wiley & Sons Inc

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Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease

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Human Molecular Genetics, Vol. 12, Iss. 11, 2003-06 ,pp. : 1223-1231

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Characterizing the functional consequences of haploinsufficiency of NELF-A ( WHSC2 ) and SLBP identifies novel cellular phenotypes in Wolf–Hirschhorn syndrome

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Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome

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