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Olaf Hiort

Showing results (141-150 of 195) with videos related to

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American Journal of Human Genetics|February 23, 2010
Deletion and point mutations of PTHLH cause brachydactyly type EEva Klopocki, Bianca P Hennig, Katarina Dathe, et al.
Pediatric Diabetes|October 3, 2020
Outcomes of monthly video consultations as an add-on to regular care for children with type 1 diabetes: A 6-month quasi-randomized clinical trial followed by an extension phaseSimone von Sengbusch, Nora Eisemann, Esther Mueller-Godeffroy, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|December 19, 2015
Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene MutationRalf Werner, Isabel Mönig, Julia August, et al.
Scientific Reports|February 13, 2026
Exploring the underlying gene expression profiles of differences of sex development phenotypes through transcriptome analysisHelena Fabbri-Scallet, Verónica Calonga-Solís, Gil Guerra-Júnior, et al.
Frontiers in Pediatrics|April 8, 2025
Structured care after a DSD diagnosis in childhood: a mixed methods evaluation of the Empower-DSD programKatja Wechsung, Louise Marshall, Martina Jürgensen, et al.
Nature Reviews. Endocrinology|August 14, 2019
Addressing gaps in care of people with conditions affecting sex development and maturationOlaf Hiort, Martine Cools, Alexander Springer, et al.
Plos One|April 26, 2016
A Recurrent Germline Mutation in the 5'UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF TranslationNadine C Hornig, Carine de Beaufort, Friederike Denzer, et al.
The Journal of Clinical Endocrinology and Metabolism|June 11, 2019
Reduced Androgen Receptor Expression in Genital Skin Fibroblasts From Patients With 45,X/46,XY MosaicismNadine C Hornig, Jeta Demiri, Pascal Rodens, et al.
Human Mutation|October 14, 2017
Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex developmentHelena Fabbri-Scallet, Maricilda Palandi de Mello, Gil Guerra-Júnior, et al.
The Lancet. Diabetes & Endocrinology|August 5, 2018
Oestrogen versus androgen in hormone-replacement therapy for complete androgen insensitivity syndrome: a multicentre, randomised, double-dummy, double-blind crossover trialWiebke Birnbaum, Louise Marshall, Ralf Werner, et al.
Pageof 20

Showing results (141-150 of 195) with videos related to

Sort By:
Pageof 20
American Journal of Human Genetics|February 23, 2010
Deletion and point mutations of PTHLH cause brachydactyly type EEva Klopocki, Bianca P Hennig, Katarina Dathe, et al.
Pediatric Diabetes|October 3, 2020
Outcomes of monthly video consultations as an add-on to regular care for children with type 1 diabetes: A 6-month quasi-randomized clinical trial followed by an extension phaseSimone von Sengbusch, Nora Eisemann, Esther Mueller-Godeffroy, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|December 19, 2015
Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene MutationRalf Werner, Isabel Mönig, Julia August, et al.
Scientific Reports|February 13, 2026
Exploring the underlying gene expression profiles of differences of sex development phenotypes through transcriptome analysisHelena Fabbri-Scallet, Verónica Calonga-Solís, Gil Guerra-Júnior, et al.
Frontiers in Pediatrics|April 8, 2025
Structured care after a DSD diagnosis in childhood: a mixed methods evaluation of the Empower-DSD programKatja Wechsung, Louise Marshall, Martina Jürgensen, et al.
Nature Reviews. Endocrinology|August 14, 2019
Addressing gaps in care of people with conditions affecting sex development and maturationOlaf Hiort, Martine Cools, Alexander Springer, et al.
Plos One|April 26, 2016
A Recurrent Germline Mutation in the 5'UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF TranslationNadine C Hornig, Carine de Beaufort, Friederike Denzer, et al.
The Journal of Clinical Endocrinology and Metabolism|June 11, 2019
Reduced Androgen Receptor Expression in Genital Skin Fibroblasts From Patients With 45,X/46,XY MosaicismNadine C Hornig, Jeta Demiri, Pascal Rodens, et al.
Human Mutation|October 14, 2017
Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex developmentHelena Fabbri-Scallet, Maricilda Palandi de Mello, Gil Guerra-Júnior, et al.
The Lancet. Diabetes & Endocrinology|August 5, 2018
Oestrogen versus androgen in hormone-replacement therapy for complete androgen insensitivity syndrome: a multicentre, randomised, double-dummy, double-blind crossover trialWiebke Birnbaum, Louise Marshall, Ralf Werner, et al.
Pageof 20