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ABOUT JoVE

Overview Leadership Blog JoVE Help Center

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Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

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Testimonials Subscriptions Access Resources Library Advisory Board FAQ

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JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

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M G Ausems

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Clinical Genetics|November 1, 1996

Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutationO P van Diggelen, J Zaremba, W He, et al.

American Journal of Medical Genetics|January 20, 1997

Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation familyM G Ausems, E Bakker, R Berger, et al.

Community Genetics|June 8, 2004

Glycogen storage disease type II: birth prevalence agrees with predicted genotype frequencyM G Ausems, K ten Berg, M A Kroos, et al.

Familial Cancer|January 5, 2019

TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohortJ J Bakhuizen, F B Hogervorst, M E Velthuizen, et al.

Human Molecular Genetics|February 13, 2001

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63J A McGrath, P H Duijf, V Doetsch, et al.

Human Molecular Genetics|August 11, 1999

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndromeM Kalff-Suske, A Wild, J Topp, et al.

Pageof 3

Search research articles

Showing results (21-30 of 26) with videos related to

Sort By:

Pageof 3

You have reached the last page of results.This site can display upto 26 results.

Clinical Genetics|November 1, 1996

Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutationO P van Diggelen, J Zaremba, W He, et al.

American Journal of Medical Genetics|January 20, 1997

Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation familyM G Ausems, E Bakker, R Berger, et al.

Community Genetics|June 8, 2004

Glycogen storage disease type II: birth prevalence agrees with predicted genotype frequencyM G Ausems, K ten Berg, M A Kroos, et al.

Familial Cancer|January 5, 2019

TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohortJ J Bakhuizen, F B Hogervorst, M E Velthuizen, et al.

Human Molecular Genetics|February 13, 2001

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63J A McGrath, P H Duijf, V Doetsch, et al.

Human Molecular Genetics|August 11, 1999

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndromeM Kalff-Suske, A Wild, J Topp, et al.

Pageof 3