Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Human mutation

Showing results (891-900 of 6,545) with videos related to

Pageof 655
Sort By:
Human Mutation|July 9, 2004
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLRPilar Mozas, Sergio Castillo, Diego Tejedor, et al.
Human Mutation|April 21, 2005
Nephrogenic diabetes insipidus caused by mutation of Tyr205: a key residue of V2 vasopressin receptor functionKatrin Sangkuhl, Holger Römpler, Wibke Busch, et al.
Human Mutation|April 21, 2005
Identification of novel mutations in classical galactosemiaAnnet M Bosch, Lodewijk Ijlst, Wendy Oostheim, et al.
Human Mutation|February 16, 2005
Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT studyEugenia Biguzzi, Cristina Razzari, David A Lane, et al.
Human Mutation|February 16, 2005
Novel somatic mutations in the BRCA1 gene in sporadic breast tumorsMarketa Janatova, Michal Zikan, Pavel Dundr, et al.
Human Mutation|February 16, 2005
Two novel mutations of the AIRE protein affecting its homodimerization propertiesA Meloni, E Fiorillo, D Corda, et al.
Human Mutation|February 16, 2005
Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosisMichele Sbaragli, Lucia Bibi, Maria Gabriela Pittis, et al.
Human Mutation|February 16, 2005
Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlationVeronica Servedio, Maria d'Apolito, Nunzia Maiorano, et al.
Human Mutation|February 16, 2005
P gene mutations associated with oculocutaneous albinism type II (OCA2)William S Oetting, Sarah Savage Garrett, Marcia Brott, et al.
Human Mutation|February 17, 2005
Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 geneSteven F Dobrowolski, Jason T McKinney, Cristina Amat di San Filippo, et al.
Pageof 655

Showing results (891-900 of 6,545) with videos related to

Sort By:
Pageof 655
Human Mutation|July 9, 2004
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLRPilar Mozas, Sergio Castillo, Diego Tejedor, et al.
Human Mutation|April 21, 2005
Nephrogenic diabetes insipidus caused by mutation of Tyr205: a key residue of V2 vasopressin receptor functionKatrin Sangkuhl, Holger Römpler, Wibke Busch, et al.
Human Mutation|April 21, 2005
Identification of novel mutations in classical galactosemiaAnnet M Bosch, Lodewijk Ijlst, Wendy Oostheim, et al.
Human Mutation|February 16, 2005
Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT studyEugenia Biguzzi, Cristina Razzari, David A Lane, et al.
Human Mutation|February 16, 2005
Novel somatic mutations in the BRCA1 gene in sporadic breast tumorsMarketa Janatova, Michal Zikan, Pavel Dundr, et al.
Human Mutation|February 16, 2005
Two novel mutations of the AIRE protein affecting its homodimerization propertiesA Meloni, E Fiorillo, D Corda, et al.
Human Mutation|February 16, 2005
Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosisMichele Sbaragli, Lucia Bibi, Maria Gabriela Pittis, et al.
Human Mutation|February 16, 2005
Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlationVeronica Servedio, Maria d'Apolito, Nunzia Maiorano, et al.
Human Mutation|February 16, 2005
P gene mutations associated with oculocutaneous albinism type II (OCA2)William S Oetting, Sarah Savage Garrett, Marcia Brott, et al.
Human Mutation|February 17, 2005
Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 geneSteven F Dobrowolski, Jason T McKinney, Cristina Amat di San Filippo, et al.
Pageof 655