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The New England Journal of Medicine
|
February 28, 2009
Mutations in NR5A1 associated with ovarian insufficiency
Diana Lourenço, Raja Brauner, Lin Lin, et al.
Pediatric Blood & Cancer
|
August 28, 2024
Comment on: Congenital dyserythropoietic anemia type IV with KLF1 E325K mutation: A new case with dysmorphic male genitalia. Report of a second case
Olha Dorosh, Khrystyna Bodak, Iryna Tsymbalyuk-Voloshyn, et al.
Journal of the Endocrine Society
|
November 21, 2019
Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD
Federica Buonocore, Oliver Clifford-Mobley, Tom F J King, et al.
Endocrine Connections
|
July 29, 2022
A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review
Avinaash Maharaj, Ruth Kwong, Jack Williams, et al.
The Journal of Clinical Endocrinology and Metabolism
|
August 17, 2021
ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency
Sinéad M McGlacken-Byrne, Polona Le Quesne Stabej, Ignacio Del Valle, et al.
Clinical Endocrinology
|
August 14, 2015
Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015)
S Faisal Ahmed, John C Achermann, Wiebke Arlt, et al.
The Journal of Clinical Endocrinology and Metabolism
|
January 4, 2007
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function
Lin Lin, Pascal Philibert, Bruno Ferraz-de-Souza, et al.
The Journal of Clinical Investigation
|
August 26, 2006
Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans
Daniel Kelberman, Karine Rizzoti, Ariel Avilion, et al.
American Journal of Human Genetics
|
October 5, 2010
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1
Anu Bashamboo, Bruno Ferraz-de-Souza, Diana Lourenço, et al.
The Journal of Clinical Endocrinology and Metabolism
|
September 24, 2009
Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency
Louise A Metherell, Danielle Naville, George Halaby, et al.
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of 11
Search research articles
Search
Showing results (71-80 of 108) with videos related to
Sort By:
Page
of 11
The New England Journal of Medicine
|
February 28, 2009
Mutations in NR5A1 associated with ovarian insufficiency
Diana Lourenço, Raja Brauner, Lin Lin, et al.
Pediatric Blood & Cancer
|
August 28, 2024
Comment on: Congenital dyserythropoietic anemia type IV with KLF1 E325K mutation: A new case with dysmorphic male genitalia. Report of a second case
Olha Dorosh, Khrystyna Bodak, Iryna Tsymbalyuk-Voloshyn, et al.
Journal of the Endocrine Society
|
November 21, 2019
Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD
Federica Buonocore, Oliver Clifford-Mobley, Tom F J King, et al.
Endocrine Connections
|
July 29, 2022
A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review
Avinaash Maharaj, Ruth Kwong, Jack Williams, et al.
The Journal of Clinical Endocrinology and Metabolism
|
August 17, 2021
ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency
Sinéad M McGlacken-Byrne, Polona Le Quesne Stabej, Ignacio Del Valle, et al.
Clinical Endocrinology
|
August 14, 2015
Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015)
S Faisal Ahmed, John C Achermann, Wiebke Arlt, et al.
The Journal of Clinical Endocrinology and Metabolism
|
January 4, 2007
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function
Lin Lin, Pascal Philibert, Bruno Ferraz-de-Souza, et al.
The Journal of Clinical Investigation
|
August 26, 2006
Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans
Daniel Kelberman, Karine Rizzoti, Ariel Avilion, et al.
American Journal of Human Genetics
|
October 5, 2010
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1
Anu Bashamboo, Bruno Ferraz-de-Souza, Diana Lourenço, et al.
The Journal of Clinical Endocrinology and Metabolism
|
September 24, 2009
Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency
Louise A Metherell, Danielle Naville, George Halaby, et al.
Page
of 11