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Olaf Hiort

Showing results (91-100 of 195) with videos related to

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Nature Reviews. Endocrinology|July 16, 2014
Management of disorders of sex developmentOlaf Hiort, Wiebke Birnbaum, Louise Marshall, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|February 8, 2018
Endoscopy and Laparoscopy in Disorders of Sex DevelopmentKianusch Tafazzoli, Lutz Wünsch, Marie Bouteleux, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|April 23, 2003
Mutational analysis of Hungarian patients with androgen insensitivity syndromeDóra Scheiber, Csaba Barta, Zita Halász, et al.
Endocrine Connections|December 8, 2020
Educational and knowledge gaps within the European reference network on rare endocrine conditionsVioleta Iotova, Camilla Schalin-Jäntti, Petra Bruegmann, et al.
Endocrine|February 3, 2021
Patients with rare endocrine conditions have corresponding views on unmet needs in clinical researchJohan P de Graaf, Friso de Vries, Anne Dirkson, et al.
Molecular Genetics & Genomic Medicine|March 25, 2015
A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS geneSusanne Thiele, Ralf Werner, Joachim Grötzinger, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|September 7, 2020
Spectrum of Pathogenic Variants in SRD5A2 in Indian Children with 46,XY Disorders of Sex Development and Clinically Suspected Steroid 5α-Reductase 2 DeficiencyAnil Kumar, Rajni Sharma, Mohammed Faruq, et al.
The Journal of Clinical Endocrinology and Metabolism|June 29, 2006
The A645D mutation in the hinge region of the human androgen receptor (AR) gene modulates AR activity, depending on the context of the polymorphic glutamine and glycine repeatsRalf Werner, Paul-Martin Holterhus, Gerhard Binder, et al.
American Journal of Medical Genetics. Part A|June 17, 2009
Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleedingLuitgard M Graul-Neumann, Alexia Bach, Michael Albani, et al.
Clinical Endocrinology|March 8, 2026
Clinical Characterization and Molecular Profiling by Targeted Next-Generation Sequencing in a Large Indian Cohort With 46,XY Differences in Sex DevelopmentVandana Jain, Sukanya Priyadarshini, Rajni Sharma, et al.
Pageof 20

Showing results (91-100 of 195) with videos related to

Sort By:
Pageof 20
Nature Reviews. Endocrinology|July 16, 2014
Management of disorders of sex developmentOlaf Hiort, Wiebke Birnbaum, Louise Marshall, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|February 8, 2018
Endoscopy and Laparoscopy in Disorders of Sex DevelopmentKianusch Tafazzoli, Lutz Wünsch, Marie Bouteleux, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|April 23, 2003
Mutational analysis of Hungarian patients with androgen insensitivity syndromeDóra Scheiber, Csaba Barta, Zita Halász, et al.
Endocrine Connections|December 8, 2020
Educational and knowledge gaps within the European reference network on rare endocrine conditionsVioleta Iotova, Camilla Schalin-Jäntti, Petra Bruegmann, et al.
Endocrine|February 3, 2021
Patients with rare endocrine conditions have corresponding views on unmet needs in clinical researchJohan P de Graaf, Friso de Vries, Anne Dirkson, et al.
Molecular Genetics & Genomic Medicine|March 25, 2015
A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS geneSusanne Thiele, Ralf Werner, Joachim Grötzinger, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|September 7, 2020
Spectrum of Pathogenic Variants in SRD5A2 in Indian Children with 46,XY Disorders of Sex Development and Clinically Suspected Steroid 5α-Reductase 2 DeficiencyAnil Kumar, Rajni Sharma, Mohammed Faruq, et al.
The Journal of Clinical Endocrinology and Metabolism|June 29, 2006
The A645D mutation in the hinge region of the human androgen receptor (AR) gene modulates AR activity, depending on the context of the polymorphic glutamine and glycine repeatsRalf Werner, Paul-Martin Holterhus, Gerhard Binder, et al.
American Journal of Medical Genetics. Part A|June 17, 2009
Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleedingLuitgard M Graul-Neumann, Alexia Bach, Michael Albani, et al.
Clinical Endocrinology|March 8, 2026
Clinical Characterization and Molecular Profiling by Targeted Next-Generation Sequencing in a Large Indian Cohort With 46,XY Differences in Sex DevelopmentVandana Jain, Sukanya Priyadarshini, Rajni Sharma, et al.
Pageof 20