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Raja Brauner

Showing results (91-100 of 96) with videos related to

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Nature Genetics|September 6, 2005
Identification of mutations in CUL7 in 3-M syndromeCéline Huber, Dora Dias-Santagata, Anna Glaser, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 25, 2019
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndromeKen McElreavey, Anne Jorgensen, Caroline Eozenou, et al.
The Journal of Clinical Endocrinology and Metabolism|December 23, 2004
Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutationsSophie Vallette-Kasic, Thierry Brue, Anne-Marie Pulichino, et al.
The Lancet. Diabetes & Endocrinology|June 29, 2023
Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort studyAna P M Canton, Flávia R Tinano, Leonardo Guasti, et al.
The Journal of Clinical Endocrinology and Metabolism|June 20, 2023
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and PubertyKatie Duckett, Alice Williamson, John W R Kincaid, et al.
Human Molecular Genetics|January 27, 2018
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomaliesMarie-France Portnoi, Marie-Charlotte Dumargne, Sandra Rojo, et al.
Pageof 10

Showing results (91-100 of 96) with videos related to

Sort By:
Pageof 10
You have reached the last page of results.This site can display upto 96 results.
Nature Genetics|September 6, 2005
Identification of mutations in CUL7 in 3-M syndromeCéline Huber, Dora Dias-Santagata, Anna Glaser, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 25, 2019
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndromeKen McElreavey, Anne Jorgensen, Caroline Eozenou, et al.
The Journal of Clinical Endocrinology and Metabolism|December 23, 2004
Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutationsSophie Vallette-Kasic, Thierry Brue, Anne-Marie Pulichino, et al.
The Lancet. Diabetes & Endocrinology|June 29, 2023
Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort studyAna P M Canton, Flávia R Tinano, Leonardo Guasti, et al.
The Journal of Clinical Endocrinology and Metabolism|June 20, 2023
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and PubertyKatie Duckett, Alice Williamson, John W R Kincaid, et al.
Human Molecular Genetics|January 27, 2018
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomaliesMarie-France Portnoi, Marie-Charlotte Dumargne, Sandra Rojo, et al.
Pageof 10