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John C Achermann

Showing results (51-60 of 108) with videos related to

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The Journal of Clinical Endocrinology and Metabolism|January 15, 2002
Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenitaGiovanna Mantovani, Gokhan Ozisik, John C Achermann, et al.
The Journal of Clinical Endocrinology and Metabolism|December 14, 2006
Variable phenotypes associated with aromatase (CYP19) insufficiency in humansLin Lin, Oya Ercan, Jamal Raza, et al.
Molecular and Cellular Endocrinology|January 14, 2012
Analysis of LIN28A in early human ovary development and as a candidate gene for primary ovarian insufficiencyRanna El-Khairi, Rahul Parnaik, Andrew J Duncan, et al.
European Journal of Endocrinology|January 10, 2020
Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosisWafa Kallali, Ewan Gray, Muhammad Zain Mehdi, et al.
The Journal of Clinical Endocrinology and Metabolism|October 28, 2004
Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failureOlaf Hiort, Paul-Martin Holterhus, Ralf Werner, et al.
European Journal of Endocrinology|April 5, 2012
Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutationsSally Tantawy, Lin Lin, Ilker Akkurt, et al.
F1000Research|May 13, 2020
Analysis of <i>CDKN1C</i> in fetal growth restriction and pregnancy lossJenifer P Suntharalingham, Miho Ishida, Federica Buonocore, et al.
Wellcome Open Research|May 2, 2017
A genomic atlas of human adrenal and gonad developmentIgnacio Del Valle, Federica Buonocore, Andrew J Duncan, et al.
Human Mutation|August 19, 2007
Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiencyBirgit Köhler, Lin Lin, Bruno Ferraz-de-Souza, et al.
Journal of Clinical Research in Pediatric Endocrinology|July 26, 2017
A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to MakeSemra Çetinkaya, Tülay Güran, Erdal Kurnaz, et al.
Pageof 11

Showing results (51-60 of 108) with videos related to

Sort By:
Pageof 11
The Journal of Clinical Endocrinology and Metabolism|January 15, 2002
Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenitaGiovanna Mantovani, Gokhan Ozisik, John C Achermann, et al.
The Journal of Clinical Endocrinology and Metabolism|December 14, 2006
Variable phenotypes associated with aromatase (CYP19) insufficiency in humansLin Lin, Oya Ercan, Jamal Raza, et al.
Molecular and Cellular Endocrinology|January 14, 2012
Analysis of LIN28A in early human ovary development and as a candidate gene for primary ovarian insufficiencyRanna El-Khairi, Rahul Parnaik, Andrew J Duncan, et al.
European Journal of Endocrinology|January 10, 2020
Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosisWafa Kallali, Ewan Gray, Muhammad Zain Mehdi, et al.
The Journal of Clinical Endocrinology and Metabolism|October 28, 2004
Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failureOlaf Hiort, Paul-Martin Holterhus, Ralf Werner, et al.
European Journal of Endocrinology|April 5, 2012
Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutationsSally Tantawy, Lin Lin, Ilker Akkurt, et al.
F1000Research|May 13, 2020
Analysis of <i>CDKN1C</i> in fetal growth restriction and pregnancy lossJenifer P Suntharalingham, Miho Ishida, Federica Buonocore, et al.
Wellcome Open Research|May 2, 2017
A genomic atlas of human adrenal and gonad developmentIgnacio Del Valle, Federica Buonocore, Andrew J Duncan, et al.
Human Mutation|August 19, 2007
Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiencyBirgit Köhler, Lin Lin, Bruno Ferraz-de-Souza, et al.
Journal of Clinical Research in Pediatric Endocrinology|July 26, 2017
A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to MakeSemra Çetinkaya, Tülay Güran, Erdal Kurnaz, et al.
Pageof 11