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D J Halley

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Journal of Medical Genetics|January 1, 1996

Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complexR Vrtel, S Verhoef, K Bouman, et al.

Human Molecular Genetics|January 15, 1999

The spectrum of mutations in UBE3A causing Angelman syndromeP Fang, E Lev-Lehman, T F Tsai, et al.

European Journal of Cancer (Oxford, England : 1990)|October 13, 2001

Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer familiesL C Verhoog, A M van den Ouweland, E Berns, et al.

The Journal of Clinical Endocrinology and Metabolism|December 22, 1999

17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutationsA L Boehmer, A O Brinkmann, L A Sandkuijl, et al.

Human Molecular Genetics|October 1, 1996

Positional cloning of a gene involved in hereditary multiple exostosesW Wuyts, W Van Hul, J Wauters, et al.

American Journal of Human Genetics|June 23, 1998

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosisK Buiting, B Dittrich, S Gross, et al.

Pageof 10

Search research articles

Showing results (91-100 of 96) with videos related to

Sort By:

Pageof 10

You have reached the last page of results.This site can display upto 96 results.

Journal of Medical Genetics|January 1, 1996

Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complexR Vrtel, S Verhoef, K Bouman, et al.

Human Molecular Genetics|January 15, 1999

The spectrum of mutations in UBE3A causing Angelman syndromeP Fang, E Lev-Lehman, T F Tsai, et al.

European Journal of Cancer (Oxford, England : 1990)|October 13, 2001

Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer familiesL C Verhoog, A M van den Ouweland, E Berns, et al.

The Journal of Clinical Endocrinology and Metabolism|December 22, 1999

Human Molecular Genetics|October 1, 1996

Positional cloning of a gene involved in hereditary multiple exostosesW Wuyts, W Van Hul, J Wauters, et al.

American Journal of Human Genetics|June 23, 1998

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosisK Buiting, B Dittrich, S Gross, et al.

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