Výsledky vyhledávání - "Kotlar, Thomas J."

Akademický článek

A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics.

Autor: Allen, Linda A., Achermann, John C., Pakarinen, Pirjo, Kotlar, Thomas J., Huhtaniemi, Ilpo T., Jameson, J. Larry, Cheetham, Tim D., Ball, Stephen G.

Publikováno v: Human Reproduction; Feb2003, Vol. 18 Issue 2, p251-256, 6p

Zobrazit plný text záznamu

Akademický článek

Clinical and molecular analysis of three families with autosomal dominant neurohypophyseal diabetes insipidus associated with a novel and recurrent mutations in the vasopressin-neurophysin II gene.

Autor: Rutishauser, Jonas, Kopp, Peter, Gaskill, Mary Beth, Kotlar, Thomas J., Robertson, Gary L.

Publikováno v: European Journal of Endocrinology; May2002, Vol. 146 Issue 5, p649-656, 8p

Zobrazit plný text záznamu

Periodical

A Novel Mutation (R97C) in the Neurophysin Moiety of Prepro-Vasopressin-Neurophysin II Associated with Autosomal-Dominant Neurohypophyseal Diabetes Insipidus

Autor: Rutishauser, Jonas, Kopp, Peter, Gaskill, Mary Beth, Kotlar, Thomas J., Robertson, Gary L.

Publikováno v: Molecular Genetics and Metabolism; May 1999, Vol. 67 Issue: 1 p89-92, 4p

Zobrazit plný text záznamu