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Olaf Hiort

Showing results (111-120 of 195) with videos related to

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Human Mutation|October 10, 2018
In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesisAsma Tajouri, Maher Kharrat, Syrine Hizem, et al.
Endocrine|October 6, 2021
Pubertal development in 46,XY patients with NR5A1 mutationsIsabel Mönig, Julia Schneidewind, Trine H Johannsen, et al.
European Journal of Endocrinology|May 15, 2009
The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiencyBirgit Köhler, Lin Lin, Inas Mazen, et al.
Journal of Clinical Medicine|August 26, 2022
MYRF: A New Regulator of Cardiac and Early Gonadal Development-Insights from Single Cell RNA Sequencing AnalysisVerónica Calonga-Solís, Helena Fabbri-Scallet, Fabian Ott, et al.
Journal of Diabetes Science and Technology|July 19, 2019
Monthly Video-Consultation for Children With Type 1 Diabetes Using a Continuous Glucose Monitoring System: Design of ViDiKi, a Multimethod Intervention Study to Evaluate the Benefit of TelemedicineFabian-Simon Frielitz, Esther Müller-Godeffroy, Joachim Hübner, et al.
Endocrine|February 18, 2021
Access to patient oriented information-a baseline Endo-ERN survey among patients with rare endocrine disordersVioleta Iotova, Camilla Schalin-Jäntti, Petra Bruegmann, et al.
The Journal of Clinical Endocrinology and Metabolism|May 1, 2015
46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome SequencingRalf Werner, Hartmut Merz, Wiebke Birnbaum, et al.
Endocrinology|January 28, 2021
Diabetes Type 1 Negatively Influences Leydig Cell Function in Rats, Which is Partially Reversible By Insulin TreatmentIsabel Viola Wagner, Nora Klöting, Iuliia Savchuk, et al.
Journal of the Endocrine Society|July 10, 2019
Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With Pseudohypoparathyroidism 1AMartin Munteanu, Cordula Kiewert, Nora Matar, et al.
European Journal of Endocrinology|January 16, 2026
ENDO-ERN Expert Opinion: Addressing the Endocrine Needs in Considering Genital Surgery in Disorders/Differences in Sex Development (DSD) Individuals in EuropeHedi L Claahsen-van der Grinten, Claus H Gravholt, Emily K White, et al.
Pageof 20

Showing results (111-120 of 195) with videos related to

Sort By:
Pageof 20
Human Mutation|October 10, 2018
In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesisAsma Tajouri, Maher Kharrat, Syrine Hizem, et al.
Endocrine|October 6, 2021
Pubertal development in 46,XY patients with NR5A1 mutationsIsabel Mönig, Julia Schneidewind, Trine H Johannsen, et al.
European Journal of Endocrinology|May 15, 2009
The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiencyBirgit Köhler, Lin Lin, Inas Mazen, et al.
Journal of Clinical Medicine|August 26, 2022
MYRF: A New Regulator of Cardiac and Early Gonadal Development-Insights from Single Cell RNA Sequencing AnalysisVerónica Calonga-Solís, Helena Fabbri-Scallet, Fabian Ott, et al.
Journal of Diabetes Science and Technology|July 19, 2019
Monthly Video-Consultation for Children With Type 1 Diabetes Using a Continuous Glucose Monitoring System: Design of ViDiKi, a Multimethod Intervention Study to Evaluate the Benefit of TelemedicineFabian-Simon Frielitz, Esther Müller-Godeffroy, Joachim Hübner, et al.
Endocrine|February 18, 2021
Access to patient oriented information-a baseline Endo-ERN survey among patients with rare endocrine disordersVioleta Iotova, Camilla Schalin-Jäntti, Petra Bruegmann, et al.
The Journal of Clinical Endocrinology and Metabolism|May 1, 2015
46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome SequencingRalf Werner, Hartmut Merz, Wiebke Birnbaum, et al.
Endocrinology|January 28, 2021
Diabetes Type 1 Negatively Influences Leydig Cell Function in Rats, Which is Partially Reversible By Insulin TreatmentIsabel Viola Wagner, Nora Klöting, Iuliia Savchuk, et al.
Journal of the Endocrine Society|July 10, 2019
Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With Pseudohypoparathyroidism 1AMartin Munteanu, Cordula Kiewert, Nora Matar, et al.
European Journal of Endocrinology|January 16, 2026
ENDO-ERN Expert Opinion: Addressing the Endocrine Needs in Considering Genital Surgery in Disorders/Differences in Sex Development (DSD) Individuals in EuropeHedi L Claahsen-van der Grinten, Claus H Gravholt, Emily K White, et al.
Pageof 20