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

John C Achermann

Showing results (41-50 of 108) with videos related to

Pageof 11
Sort By:
The Journal of Clinical Endocrinology and Metabolism|January 10, 2008
Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450sccChan Jong Kim, Lin Lin, Ningwu Huang, et al.
The Journal of Clinical Endocrinology and Metabolism|September 6, 2002
Progressive onset of adrenal insufficiency and hypogonadism of pituitary origin caused by a complex genetic rearrangement within DAX-1Roberto Salvi, Fulgencio Gomez, Muriel Fiaux, et al.
The Journal of Clinical Endocrinology and Metabolism|January 18, 2011
Sterol O-acyltransferase 1 (SOAT1, ACAT) is a novel target of steroidogenic factor-1 (SF-1, NR5A1, Ad4BP) in the human adrenalBruno Ferraz-de-Souza, Rebecca E Hudson-Davies, Lin Lin, et al.
Hormone Research in Paediatrics|June 8, 2020
Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB MutationsDinesh Giri, Detlef Bockenhauer, Charu Deshpande, et al.
Hormone Research|February 20, 2007
A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenitaImran Ahmad, Wendy F Paterson, Lin Lin, et al.
The Journal of Clinical Endocrinology and Metabolism|July 4, 2024
Characterization of Turner Syndrome-associated Diabetes MellitusAntoinette Cameron-Pimblett, Clementina La Rosa, Melanie C Davies, et al.
Clinical Endocrinology|September 15, 2011
The growth hormone receptor gene deleted for exon three (GHRd3) polymorphism is associated with birth and placental weightRaja Padidela, Sinead M Bryan, Sayeda Abu-Amero, et al.
Endocrinology, Diabetes & Metabolism Case Reports|September 26, 2021
Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiencyAshwini Maudhoo, Avinaash Maharaj, Federica Buonocore, et al.
Best Practice & Research. Clinical Endocrinology & Metabolism|June 15, 2010
Holistic management of DSDCaroline E Brain, Sarah M Creighton, Imran Mushtaq, et al.
European Journal of Endocrinology|May 15, 2009
The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiencyBirgit Köhler, Lin Lin, Inas Mazen, et al.
Pageof 11

Showing results (41-50 of 108) with videos related to

Sort By:
Pageof 11
The Journal of Clinical Endocrinology and Metabolism|January 10, 2008
Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450sccChan Jong Kim, Lin Lin, Ningwu Huang, et al.
The Journal of Clinical Endocrinology and Metabolism|September 6, 2002
Progressive onset of adrenal insufficiency and hypogonadism of pituitary origin caused by a complex genetic rearrangement within DAX-1Roberto Salvi, Fulgencio Gomez, Muriel Fiaux, et al.
The Journal of Clinical Endocrinology and Metabolism|January 18, 2011
Sterol O-acyltransferase 1 (SOAT1, ACAT) is a novel target of steroidogenic factor-1 (SF-1, NR5A1, Ad4BP) in the human adrenalBruno Ferraz-de-Souza, Rebecca E Hudson-Davies, Lin Lin, et al.
Hormone Research in Paediatrics|June 8, 2020
Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB MutationsDinesh Giri, Detlef Bockenhauer, Charu Deshpande, et al.
Hormone Research|February 20, 2007
A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenitaImran Ahmad, Wendy F Paterson, Lin Lin, et al.
The Journal of Clinical Endocrinology and Metabolism|July 4, 2024
Characterization of Turner Syndrome-associated Diabetes MellitusAntoinette Cameron-Pimblett, Clementina La Rosa, Melanie C Davies, et al.
Clinical Endocrinology|September 15, 2011
The growth hormone receptor gene deleted for exon three (GHRd3) polymorphism is associated with birth and placental weightRaja Padidela, Sinead M Bryan, Sayeda Abu-Amero, et al.
Endocrinology, Diabetes & Metabolism Case Reports|September 26, 2021
Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiencyAshwini Maudhoo, Avinaash Maharaj, Federica Buonocore, et al.
Best Practice & Research. Clinical Endocrinology & Metabolism|June 15, 2010
Holistic management of DSDCaroline E Brain, Sarah M Creighton, Imran Mushtaq, et al.
European Journal of Endocrinology|May 15, 2009
The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiencyBirgit Köhler, Lin Lin, Inas Mazen, et al.
Pageof 11