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Clinical Genetics
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June 26, 2019
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review
Varoona 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 Hypophosphatemia
Anne-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 mutations
Diana-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 hypophosphatemia
Volha 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 Disease
Marie-Noëlle Méaux, Jérôme Harambat, Anya Rothenbuhler, et al.
Endocrine Connections
|
January 6, 2026
Continuous Subcutaneous Hydrocortisone Infusion in Pediatric Primary Adrenal Insufficiency: A Cohort Study
Khadidja 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 study
Emese Boros, Diana-Alexandra Ertl, Jugurtha Berkenou, et al.
American Journal of Medical Genetics. Part A
|
October 10, 2023
Growth reference charts for children with hypochondroplasia
Moira 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 cancer
Fabio 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 Obesity
Patrick Hanna, Virginie Grybek, Guiomar Perez de Nanclares, et al.
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of 8
Search research articles
Search
Showing results (61-70 of 77) with videos related to
Sort By:
Page
of 8
Clinical Genetics
|
June 26, 2019
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review
Varoona 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 Hypophosphatemia
Anne-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 mutations
Diana-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 hypophosphatemia
Volha 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 Disease
Marie-Noëlle Méaux, Jérôme Harambat, Anya Rothenbuhler, et al.
Endocrine Connections
|
January 6, 2026
Continuous Subcutaneous Hydrocortisone Infusion in Pediatric Primary Adrenal Insufficiency: A Cohort Study
Khadidja 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 study
Emese Boros, Diana-Alexandra Ertl, Jugurtha Berkenou, et al.
American Journal of Medical Genetics. Part A
|
October 10, 2023
Growth reference charts for children with hypochondroplasia
Moira 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 cancer
Fabio 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 Obesity
Patrick Hanna, Virginie Grybek, Guiomar Perez de Nanclares, et al.
Page
of 8