Evidence for Genetic Heterogeneity Supports Clinical Differences in Congenital Myasthenic Syndromes

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Human Heredity, Vol. 48, Iss. 6, 1998-11 ,pp. : 325-332

Karger

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Evidence for a novel gene for familial febrile convulsions, FEB2 , linked to chromosome 19p in an extended family from the Midwest

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Human Molecular Genetics, Vol. 7, Iss. 1, 1998-01 ,pp. : 63-68

Oxford University Press

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Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndrome

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Familial Hypomagnesemia Maps to Chromosome 9q, not to the X Chromosome: Genetic Linkage Mapping and Analysis of a Balanced Translocation Breakpoint

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Human Molecular Genetics, Vol. 6, Iss. 9, 1997-01 ,pp. : 1491-1497

Oxford University Press

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hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome

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Human Molecular Genetics, Vol. 17, Iss. 24, 2008-12 ,pp. : 4022-4035

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