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Charles Piussan

Osaka University

8

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315

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POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.

2015 Human Mutation
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[A case of ectrodactyly: a private pilot with a single finger on each hand].

2009 Bulletin De L Academie Nationale De Medecine
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Polymorphisms at the Werner locus: I. Newly identified polymorphisms, ethnic variability of 1367Cy/Arg, and its stability in a population of Finnish centenarians

1999 American Journal of Medical Genetics
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Homozygous and Compound Heterozygous Mutations at the Werner Syndrome Locus

1996 Human Molecular Genetics
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Homozygosity mapping of the Werner syndrome locus (WRN)

1994 Genomics
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The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21).

1993 American Journal of Human Genetics
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Dermatoglyphics in Börjeson-Forssman-Lehmann syndrome.

1985 American Journal of Medical Genetics
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Citations (1)