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Human mutation

Showing results (1421-1430 of 5,734) with videos related to

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Human Mutation|May 28, 2010
HGV2009 meeting: bigger and better studies provide more answers and more questionsKatherine Reekie, Andres Metspalu, Stephen J Chanock, et al.
Human Mutation|May 28, 2010
dbCPCO: a database of genetic markers tested for their predictive and prognostic value in colorectal cancerSevtap Savas, H Banfield Younghusband
Human Mutation|May 28, 2010
Cystathionine beta-synthase mutations: effect of mutation topology on folding and activityViktor Kozich, Jitka Sokolová, Veronika Klatovská, et al.
Human Mutation|May 28, 2010
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomicsDavid N Cooper, Jian-Min Chen, Edward V Ball, et al.
Human Mutation|September 18, 2010
Detection of clinically relevant exonic copy-number changes by array CGHPhilip M Boone, Carlos A Bacino, Chad A Shaw, et al.
Human Mutation|September 9, 2010
A novel germline CDKN1B mutation causing multiple endocrine tumors: clinical, genetic and functional characterizationSara Molatore, Ilaria Marinoni, Misu Lee, et al.
Human Mutation|October 2, 2010
Identification and characterization of 15 novel GALC gene mutations causing Krabbe diseaseBarbara Tappino, Roberta Biancheri, Matthew Mort, et al.
Human Mutation|October 2, 2010
The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive familyYvonne Hilhorst-Hofstee, Marry E B Rijlaarsdam, Arthur J H A Scholte, et al.
Human Mutation|June 22, 2010
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patientsJose Antonio Aragon-Martin, Dana Ahnood, David G Charteris, et al.
Human Mutation|August 7, 2010
CEP290, a gene with many faces: mutation overview and presentation of CEP290baseFrauke Coppieters, Steve Lefever, Bart P Leroy, et al.
Pageof 574

Showing results (1421-1430 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|May 28, 2010
HGV2009 meeting: bigger and better studies provide more answers and more questionsKatherine Reekie, Andres Metspalu, Stephen J Chanock, et al.
Human Mutation|May 28, 2010
dbCPCO: a database of genetic markers tested for their predictive and prognostic value in colorectal cancerSevtap Savas, H Banfield Younghusband
Human Mutation|May 28, 2010
Cystathionine beta-synthase mutations: effect of mutation topology on folding and activityViktor Kozich, Jitka Sokolová, Veronika Klatovská, et al.
Human Mutation|May 28, 2010
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomicsDavid N Cooper, Jian-Min Chen, Edward V Ball, et al.
Human Mutation|September 18, 2010
Detection of clinically relevant exonic copy-number changes by array CGHPhilip M Boone, Carlos A Bacino, Chad A Shaw, et al.
Human Mutation|September 9, 2010
A novel germline CDKN1B mutation causing multiple endocrine tumors: clinical, genetic and functional characterizationSara Molatore, Ilaria Marinoni, Misu Lee, et al.
Human Mutation|October 2, 2010
Identification and characterization of 15 novel GALC gene mutations causing Krabbe diseaseBarbara Tappino, Roberta Biancheri, Matthew Mort, et al.
Human Mutation|October 2, 2010
The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive familyYvonne Hilhorst-Hofstee, Marry E B Rijlaarsdam, Arthur J H A Scholte, et al.
Human Mutation|June 22, 2010
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patientsJose Antonio Aragon-Martin, Dana Ahnood, David G Charteris, et al.
Human Mutation|August 7, 2010
CEP290, a gene with many faces: mutation overview and presentation of CEP290baseFrauke Coppieters, Steve Lefever, Bart P Leroy, et al.
Pageof 574