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Philippe Touraine

Showing results (121-130 of 156) with videos related to

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Gene|June 28, 2024
Revisiting GDF9 variants in primary ovarian insufficiency: A shift from dominant to recessive pathogenicity?Pénélope Jordan, Camille Verebi, Bérénice Hervé, et al.
American Journal of Medical Genetics. Part A|November 21, 2023
Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 geneJuliette Quilichini, Sandrine Perol, Laurence Cuisset, et al.
Human Mutation|July 8, 2022
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiencyElena J Tucker, Niklas Gutfreund, Marc-Antoine Belaud-Rotureau, et al.
The Journal of Clinical Endocrinology and Metabolism|June 21, 2013
Primary adrenal insufficiency due to bilateral adrenal hemorrhage-adrenal infarction in the antiphospholipid syndrome: long-term outcome of 16 patientsIsolde Ramon, Alexis Mathian, Anne Bachelot, et al.
The Journal of Clinical Endocrinology and Metabolism|February 2, 2021
Modified-Release Hydrocortisone in Congenital Adrenal HyperplasiaDeborah P Merke, Ashwini Mallappa, Wiebke Arlt, et al.
Fertility and Sterility|February 4, 2022
Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of familiesAlexandre Rouen, Eli Rogers, Véronique Kerlan, et al.
The Journal of Clinical Endocrinology and Metabolism|November 8, 2016
Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated PatientsEnzo Cohen, Mohamad Maghnie, Nathalie Collot, et al.
Hormone Research in Paediatrics|November 8, 2014
Water and electrolyte disorders at long-term post-treatment follow-up in paediatric patients with suprasellar tumours include unexpected persistent cerebral salt-wasting syndromeLaura González Briceño, Jacques Grill, Franck Bourdeaut, et al.
European Journal of Human Genetics : EJHG|October 28, 2021
Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causesElena J Tucker, Katrina M Bell, Gorjana Robevska, et al.
European Journal of Endocrinology|July 18, 2012
Cardiovascular findings and management in Turner syndrome: insights from a French cohortBruno Donadille, Alexandra Rousseau, Delphine Zenaty, et al.
Pageof 16

Showing results (121-130 of 156) with videos related to

Sort By:
Pageof 16
Gene|June 28, 2024
Revisiting GDF9 variants in primary ovarian insufficiency: A shift from dominant to recessive pathogenicity?Pénélope Jordan, Camille Verebi, Bérénice Hervé, et al.
American Journal of Medical Genetics. Part A|November 21, 2023
Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 geneJuliette Quilichini, Sandrine Perol, Laurence Cuisset, et al.
Human Mutation|July 8, 2022
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiencyElena J Tucker, Niklas Gutfreund, Marc-Antoine Belaud-Rotureau, et al.
The Journal of Clinical Endocrinology and Metabolism|June 21, 2013
Primary adrenal insufficiency due to bilateral adrenal hemorrhage-adrenal infarction in the antiphospholipid syndrome: long-term outcome of 16 patientsIsolde Ramon, Alexis Mathian, Anne Bachelot, et al.
The Journal of Clinical Endocrinology and Metabolism|February 2, 2021
Modified-Release Hydrocortisone in Congenital Adrenal HyperplasiaDeborah P Merke, Ashwini Mallappa, Wiebke Arlt, et al.
Fertility and Sterility|February 4, 2022
Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of familiesAlexandre Rouen, Eli Rogers, Véronique Kerlan, et al.
The Journal of Clinical Endocrinology and Metabolism|November 8, 2016
Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated PatientsEnzo Cohen, Mohamad Maghnie, Nathalie Collot, et al.
Hormone Research in Paediatrics|November 8, 2014
Water and electrolyte disorders at long-term post-treatment follow-up in paediatric patients with suprasellar tumours include unexpected persistent cerebral salt-wasting syndromeLaura González Briceño, Jacques Grill, Franck Bourdeaut, et al.
European Journal of Human Genetics : EJHG|October 28, 2021
Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causesElena J Tucker, Katrina M Bell, Gorjana Robevska, et al.
European Journal of Endocrinology|July 18, 2012
Cardiovascular findings and management in Turner syndrome: insights from a French cohortBruno Donadille, Alexandra Rousseau, Delphine Zenaty, et al.
Pageof 16