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Olaf Hiort

Showing results (121-130 of 195) with videos related to

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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.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|June 6, 2015
Uniparental Disomy in Somatic Mosaicism 45,X/46,XY/46,XX Associated with Ambiguous GenitaliaAlexandre Serra, Friederike Denzer, Olaf Hiort, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|February 26, 2011
Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locusCelia Zazo, Susanne Thiele, Cesar Martín, et al.
Orphanet Journal of Rare Diseases|November 23, 2016
Current models of care for disorders of sex development - results from an International survey of specialist centresAndreas Kyriakou, Arianne Dessens, Jillian Bryce, et al.
Plos One|May 2, 2017
New NR5A1 mutations and phenotypic variations of gonadal dysgenesisRalf Werner, Isabel Mönig, Ralf Lünstedt, et al.
Hormone Research in Paediatrics|April 17, 2010
Difficulties in diagnosis and treatment of 5alpha-reductase type 2 deficiency in a newborn with 46,XY DSDKerstin N Walter, Frederike B Kienzle, Alexander Frankenschmidt, et al.
European Journal of Endocrinology|April 23, 2024
New liquid chromatography tandem mass spectrometry reference data for estradiol show mini-puberty in both sexes and typical pre-pubertal and pubertal patternsAlexandra E Kulle, Amke Caliebe, Tabea Lamprecht, et al.
European Journal of Endocrinology|May 16, 2020
An overview of clinical activities in Endo-ERN: the need for alignment of future network criteriaFriso de Vries, Mees Bruin, Angelica Cersosimo, et al.
BMC Genomics|July 3, 2009
Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytesPaul-Martin Holterhus, Jan-Hendrik Bebermeier, Ralf Werner, et al.
Endocrine|February 2, 2021
CPMS-improving patient care in Europe via virtual case discussionsIsabel Mönig, Danielle Steenvoorden, Johan P de Graaf, et al.
Pageof 20

Showing results (121-130 of 195) with videos related to

Sort By:
Pageof 20
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.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|June 6, 2015
Uniparental Disomy in Somatic Mosaicism 45,X/46,XY/46,XX Associated with Ambiguous GenitaliaAlexandre Serra, Friederike Denzer, Olaf Hiort, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|February 26, 2011
Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locusCelia Zazo, Susanne Thiele, Cesar Martín, et al.
Orphanet Journal of Rare Diseases|November 23, 2016
Current models of care for disorders of sex development - results from an International survey of specialist centresAndreas Kyriakou, Arianne Dessens, Jillian Bryce, et al.
Plos One|May 2, 2017
New NR5A1 mutations and phenotypic variations of gonadal dysgenesisRalf Werner, Isabel Mönig, Ralf Lünstedt, et al.
Hormone Research in Paediatrics|April 17, 2010
Difficulties in diagnosis and treatment of 5alpha-reductase type 2 deficiency in a newborn with 46,XY DSDKerstin N Walter, Frederike B Kienzle, Alexander Frankenschmidt, et al.
European Journal of Endocrinology|April 23, 2024
New liquid chromatography tandem mass spectrometry reference data for estradiol show mini-puberty in both sexes and typical pre-pubertal and pubertal patternsAlexandra E Kulle, Amke Caliebe, Tabea Lamprecht, et al.
European Journal of Endocrinology|May 16, 2020
An overview of clinical activities in Endo-ERN: the need for alignment of future network criteriaFriso de Vries, Mees Bruin, Angelica Cersosimo, et al.
BMC Genomics|July 3, 2009
Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytesPaul-Martin Holterhus, Jan-Hendrik Bebermeier, Ralf Werner, et al.
Endocrine|February 2, 2021
CPMS-improving patient care in Europe via virtual case discussionsIsabel Mönig, Danielle Steenvoorden, Johan P de Graaf, et al.
Pageof 20