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 (61-70 of 108) with videos related to

Pageof 11
Sort By:
Frontiers in Endocrinology|September 5, 2022
Emerging phenotypes linked to variants in <i>SAMD9</i> and MIRAGE syndromeJenifer P Suntharalingham, Miho Ishida, Ignacio Del Valle, et al.
Human Reproduction (Oxford, England)|February 7, 2003
A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristicsLinda A Allen, John C Achermann, Pirjo Pakarinen, et al.
The Journal of Clinical Endocrinology and Metabolism|June 30, 2005
A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasiaChrista E Flück, Alexander Maret, Delphine Mallet, et al.
Molecular Genetics and Metabolism|March 1, 2006
IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD geneJanna E Hutz, Andrea S Krause, John C Achermann, et al.
The Journal of Clinical Endocrinology and Metabolism|February 25, 2025
A tiered approach to exome sequencing analysis in early-onset Primary Ovarian InsufficiencySinéad M McGlacken-Byrne, Jenifer P Suntharalingham, Miho Ishida, et al.
Clinical Endocrinology|January 17, 2007
Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasiaLin Lin, Peter C Hindmarsh, Louise A Metherell, et al.
Clinical Endocrinology|August 23, 2012
A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex developmentJoyce Y Wu, Ivan N McGown, Lin Lin, et al.
Communications Biology|April 25, 2025
Transcriptomic sex differences in early human fetal brain developmentFederica Buonocore, Jenifer P Suntharalingham, Olumide K Ogunbiyi, et al.
The Journal of Clinical Endocrinology and Metabolism|November 6, 2008
CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and diseaseBruno Ferraz-de-Souza, Franziska Martin, Delphine Mallet, et al.
Frontiers in Endocrinology|October 6, 2023
Analysis of genetic variability in Turner syndrome linked to long-term clinical featuresJenifer P Suntharalingham, Miho Ishida, Antoinette Cameron-Pimblett, et al.
Pageof 11

Showing results (61-70 of 108) with videos related to

Sort By:
Pageof 11
Frontiers in Endocrinology|September 5, 2022
Emerging phenotypes linked to variants in <i>SAMD9</i> and MIRAGE syndromeJenifer P Suntharalingham, Miho Ishida, Ignacio Del Valle, et al.
Human Reproduction (Oxford, England)|February 7, 2003
A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristicsLinda A Allen, John C Achermann, Pirjo Pakarinen, et al.
The Journal of Clinical Endocrinology and Metabolism|June 30, 2005
A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasiaChrista E Flück, Alexander Maret, Delphine Mallet, et al.
Molecular Genetics and Metabolism|March 1, 2006
IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD geneJanna E Hutz, Andrea S Krause, John C Achermann, et al.
The Journal of Clinical Endocrinology and Metabolism|February 25, 2025
A tiered approach to exome sequencing analysis in early-onset Primary Ovarian InsufficiencySinéad M McGlacken-Byrne, Jenifer P Suntharalingham, Miho Ishida, et al.
Clinical Endocrinology|January 17, 2007
Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasiaLin Lin, Peter C Hindmarsh, Louise A Metherell, et al.
Clinical Endocrinology|August 23, 2012
A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex developmentJoyce Y Wu, Ivan N McGown, Lin Lin, et al.
Communications Biology|April 25, 2025
Transcriptomic sex differences in early human fetal brain developmentFederica Buonocore, Jenifer P Suntharalingham, Olumide K Ogunbiyi, et al.
The Journal of Clinical Endocrinology and Metabolism|November 6, 2008
CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and diseaseBruno Ferraz-de-Souza, Franziska Martin, Delphine Mallet, et al.
Frontiers in Endocrinology|October 6, 2023
Analysis of genetic variability in Turner syndrome linked to long-term clinical featuresJenifer P Suntharalingham, Miho Ishida, Antoinette Cameron-Pimblett, et al.
Pageof 11