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Human Mutation
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March 27, 1999
Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism
W S Oetting, R A King
Human Mutation
|
February 2, 2006
Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia
Shigeo Kure, Kumi Kato, Agirios Dinopoulos, et al.
Human Mutation
|
January 18, 2006
Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism
Anna L Gloyn, Juveria Siddiqui, Sian Ellard
Human Mutation
|
January 18, 2006
Masking selected sequence variation by incorporating mismatches into melting analysis probes
Rebecca L Margraf, Rong Mao, Carl T Wittwer
Human Mutation
|
January 24, 2006
Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI)
Ana Fernández-Marmiesse, Antonio Salas, Ana Vega, et al.
Human Mutation
|
January 24, 2006
Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia
Jane Yates, Winifred Keeble, Gerard Pals, et al.
Human Mutation
|
January 24, 2006
DRD4 gene variant associated with body mass: the National Longitudinal Study of Adolescent Health
Guang Guo, Kari North, Seulki Choi
Human Mutation
|
April 19, 2006
Long-range PCR facilitates the identification of PMS2-specific mutations
Mark Clendenning, Heather Hampel, Jennifer LaJeunesse, et al.
Human Mutation
|
March 17, 2006
Distinct patterns of germ-line deletions in MLH1 and MSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC)
Lili Li, Susan McVety, Rami Younan, et al.
Human Mutation
|
December 14, 2007
Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing
Edgar A Otto, Juliana Helou, Susan J Allen, et al.
Page
of 655
Search research articles
Search
Showing results (801-810 of 6,545) with videos related to
Sort By:
Page
of 655
Human Mutation
|
March 27, 1999
Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism
W S Oetting, R A King
Human Mutation
|
February 2, 2006
Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia
Shigeo Kure, Kumi Kato, Agirios Dinopoulos, et al.
Human Mutation
|
January 18, 2006
Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism
Anna L Gloyn, Juveria Siddiqui, Sian Ellard
Human Mutation
|
January 18, 2006
Masking selected sequence variation by incorporating mismatches into melting analysis probes
Rebecca L Margraf, Rong Mao, Carl T Wittwer
Human Mutation
|
January 24, 2006
Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI)
Ana Fernández-Marmiesse, Antonio Salas, Ana Vega, et al.
Human Mutation
|
January 24, 2006
Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia
Jane Yates, Winifred Keeble, Gerard Pals, et al.
Human Mutation
|
January 24, 2006
DRD4 gene variant associated with body mass: the National Longitudinal Study of Adolescent Health
Guang Guo, Kari North, Seulki Choi
Human Mutation
|
April 19, 2006
Long-range PCR facilitates the identification of PMS2-specific mutations
Mark Clendenning, Heather Hampel, Jennifer LaJeunesse, et al.
Human Mutation
|
March 17, 2006
Distinct patterns of germ-line deletions in MLH1 and MSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC)
Lili Li, Susan McVety, Rami Younan, et al.
Human Mutation
|
December 14, 2007
Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing
Edgar A Otto, Juliana Helou, Susan J Allen, et al.
Page
of 655