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

Sian Ellard

Showing results (131-140 of 403) with videos related to

Pageof 41
Sort By:
Journal of Medical Genetics|August 27, 2020
Assessing performance of pathogenicity predictors using clinically relevant variant datasetsAdam C Gunning, Verity Fryer, James Fasham, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|September 2, 2017
MODY in Ukraine: genes, clinical phenotypes and treatmentEvgenia Globa, Nataliya Zelinska, Lenka Elblova, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition|January 31, 2013
Clinical and molecular characterisation of hyperinsulinaemic hypoglycaemia in infants born small-for-gestational ageVed Bhushan Arya, Sarah E Flanagan, Anitha Kumaran, et al.
Diabetes|March 8, 2011
Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3Oscar Rubio-Cabezas, Jan N Jensen, Maria I Hodgson, et al.
American Journal of Medical Genetics. Part A|August 26, 2018
TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeletonChristine P Burren, Richard Caswell, Bruce Castle, et al.
Diabetes Care|June 25, 2015
Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase MutationAli J Chakera, Anna M Steele, Anna L Gloyn, et al.
Journal of Medical Genetics|February 15, 2018
Risk category system to identify pituitary adenoma patients with <i>AIP</i> mutationsFrancisca Caimari, Laura Cristina Hernández-Ramírez, Mary N Dang, et al.
American Journal of Human Genetics|May 4, 2004
Mutated MESP2 causes spondylocostal dysostosis in humansNeil V Whittock, Duncan B Sparrow, Merridee A Wouters, et al.
Diabetes Care|June 25, 2011
High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetesTim J McDonald, Beverley M Shields, Jane Lawry, et al.
Diabetologia|April 28, 2016
Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes riskNatascia Vedovato, Edward Cliff, Peter Proks, et al.
Pageof 41

Showing results (131-140 of 403) with videos related to

Sort By:
Pageof 41
Journal of Medical Genetics|August 27, 2020
Assessing performance of pathogenicity predictors using clinically relevant variant datasetsAdam C Gunning, Verity Fryer, James Fasham, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|September 2, 2017
MODY in Ukraine: genes, clinical phenotypes and treatmentEvgenia Globa, Nataliya Zelinska, Lenka Elblova, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition|January 31, 2013
Clinical and molecular characterisation of hyperinsulinaemic hypoglycaemia in infants born small-for-gestational ageVed Bhushan Arya, Sarah E Flanagan, Anitha Kumaran, et al.
Diabetes|March 8, 2011
Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3Oscar Rubio-Cabezas, Jan N Jensen, Maria I Hodgson, et al.
American Journal of Medical Genetics. Part A|August 26, 2018
TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeletonChristine P Burren, Richard Caswell, Bruce Castle, et al.
Diabetes Care|June 25, 2015
Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase MutationAli J Chakera, Anna M Steele, Anna L Gloyn, et al.
Journal of Medical Genetics|February 15, 2018
Risk category system to identify pituitary adenoma patients with <i>AIP</i> mutationsFrancisca Caimari, Laura Cristina Hernández-Ramírez, Mary N Dang, et al.
American Journal of Human Genetics|May 4, 2004
Mutated MESP2 causes spondylocostal dysostosis in humansNeil V Whittock, Duncan B Sparrow, Merridee A Wouters, et al.
Diabetes Care|June 25, 2011
High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetesTim J McDonald, Beverley M Shields, Jane Lawry, et al.
Diabetologia|April 28, 2016
Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes riskNatascia Vedovato, Edward Cliff, Peter Proks, et al.
Pageof 41