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Anya Rothenbuhler

Showing results (61-70 of 77) with videos related to

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Clinical Genetics|June 26, 2019
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature reviewVaroona Bizaoui, Caroline Michot, Geneviève Baujat, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|February 27, 2020
Hyperparathyroidism in Patients With X-Linked HypophosphatemiaAnne-Lise Lecoq, Philippe Chaumet-Riffaud, Anne Blanchard, et al.
European Journal of Endocrinology|July 13, 2023
Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutationsDiana-Alexandra Ertl, Guiomar Perez de Nanclares, Harald Jüppner, et al.
European Journal of Endocrinology|July 22, 2021
Magnetic resonance imaging is a valuable tool to evaluate the therapeutic efficacy of burosumab in children with X-linked hypophosphatemiaVolha V Zhukouskaya, Inès Mannes, Catherine Chaussain, et al.
The Journal of Clinical Endocrinology and Metabolism|November 2, 2022
Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder DiseaseMarie-Noëlle Méaux, Jérôme Harambat, Anya Rothenbuhler, et al.
Endocrine Connections|January 6, 2026
Continuous Subcutaneous Hydrocortisone Infusion in Pediatric Primary Adrenal Insufficiency: A Cohort StudyKhadidja Fouatih, Trouvin Marie-Agathe, Lambert Anne-Sophie, et al.
European Journal of Endocrinology|October 13, 2023
Adult height improved over decades in patients with X-linked hypophosphatemia: a cohort studyEmese Boros, Diana-Alexandra Ertl, Jugurtha Berkenou, et al.
American Journal of Medical Genetics. Part A|October 10, 2023
Growth reference charts for children with hypochondroplasiaMoira S Cheung, Tim J Cole, Paul Arundel, et al.
The Journal of Clinical Endocrinology and Metabolism|October 1, 2010
Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancerFabio Rueda Faucz, Anelia Horvath, Anya Rothenbuhler, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|April 26, 2018
Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset ObesityPatrick Hanna, Virginie Grybek, Guiomar Perez de Nanclares, et al.
Pageof 8

Showing results (61-70 of 77) with videos related to

Sort By:
Pageof 8
Clinical Genetics|June 26, 2019
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature reviewVaroona Bizaoui, Caroline Michot, Geneviève Baujat, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|February 27, 2020
Hyperparathyroidism in Patients With X-Linked HypophosphatemiaAnne-Lise Lecoq, Philippe Chaumet-Riffaud, Anne Blanchard, et al.
European Journal of Endocrinology|July 13, 2023
Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutationsDiana-Alexandra Ertl, Guiomar Perez de Nanclares, Harald Jüppner, et al.
European Journal of Endocrinology|July 22, 2021
Magnetic resonance imaging is a valuable tool to evaluate the therapeutic efficacy of burosumab in children with X-linked hypophosphatemiaVolha V Zhukouskaya, Inès Mannes, Catherine Chaussain, et al.
The Journal of Clinical Endocrinology and Metabolism|November 2, 2022
Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder DiseaseMarie-Noëlle Méaux, Jérôme Harambat, Anya Rothenbuhler, et al.
Endocrine Connections|January 6, 2026
Continuous Subcutaneous Hydrocortisone Infusion in Pediatric Primary Adrenal Insufficiency: A Cohort StudyKhadidja Fouatih, Trouvin Marie-Agathe, Lambert Anne-Sophie, et al.
European Journal of Endocrinology|October 13, 2023
Adult height improved over decades in patients with X-linked hypophosphatemia: a cohort studyEmese Boros, Diana-Alexandra Ertl, Jugurtha Berkenou, et al.
American Journal of Medical Genetics. Part A|October 10, 2023
Growth reference charts for children with hypochondroplasiaMoira S Cheung, Tim J Cole, Paul Arundel, et al.
The Journal of Clinical Endocrinology and Metabolism|October 1, 2010
Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancerFabio Rueda Faucz, Anelia Horvath, Anya Rothenbuhler, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|April 26, 2018
Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset ObesityPatrick Hanna, Virginie Grybek, Guiomar Perez de Nanclares, et al.
Pageof 8