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Arnaud Molin

Showing results (31-40 of 50) with videos related to

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The Journal of Clinical Endocrinology and Metabolism|October 16, 2023
Reassuring Data on the Cardiovascular Risk in Adults With X-linked Hypophosphatemia Receiving Conventional TherapyAlexandre Bouzemane, Emmanuelle Vignot, Laurence Derain Dubourg, et al.
European Journal of Human Genetics : EJHG|March 3, 2026
Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-upPerrine Brunelle, Anne-Sophie Jourdain, Fabienne Escande, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|April 15, 2021
Differential diagnosis of vitamin D-related hypercalcemia using serum vitamin D metabolite profilingMartin Kaufmann, Karl-Peter Schlingmann, Linor Berezin, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|December 31, 2019
Maternal Transmission Ratio Distortion of GNAS Loss-of-Function MutationsSarah Snanoudj, Arnaud Molin, Cindy Colson, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|May 27, 2017
Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?Arnaud Molin, Arnaud Wiedemann, Nick Demers, 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.
Orphanet Journal of Rare Diseases|December 13, 2019
Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disordersMaude Grelet, Véronique Blanck, Sabine Sigaudy, et al.
Clinical Case Reports|October 31, 2014
Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndromeLivia Marcato, Licia Turolla, Eva Pompilii, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition|October 24, 2019
Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort studyLaurélia Jourdan-Voyen, Renaud Touraine, Jean-Pierre Masutti, et al.
Human Mutation|January 10, 2022
Targeted next-generation sequencing in a large series of fetuses with severe renal diseasesPenelope Jordan, Guillaume Dorval, Christelle Arrondel, et al.
Pageof 5

Showing results (31-40 of 50) with videos related to

Sort By:
Pageof 5
The Journal of Clinical Endocrinology and Metabolism|October 16, 2023
Reassuring Data on the Cardiovascular Risk in Adults With X-linked Hypophosphatemia Receiving Conventional TherapyAlexandre Bouzemane, Emmanuelle Vignot, Laurence Derain Dubourg, et al.
European Journal of Human Genetics : EJHG|March 3, 2026
Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-upPerrine Brunelle, Anne-Sophie Jourdain, Fabienne Escande, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|April 15, 2021
Differential diagnosis of vitamin D-related hypercalcemia using serum vitamin D metabolite profilingMartin Kaufmann, Karl-Peter Schlingmann, Linor Berezin, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|December 31, 2019
Maternal Transmission Ratio Distortion of GNAS Loss-of-Function MutationsSarah Snanoudj, Arnaud Molin, Cindy Colson, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|May 27, 2017
Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?Arnaud Molin, Arnaud Wiedemann, Nick Demers, 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.
Orphanet Journal of Rare Diseases|December 13, 2019
Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disordersMaude Grelet, Véronique Blanck, Sabine Sigaudy, et al.
Clinical Case Reports|October 31, 2014
Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndromeLivia Marcato, Licia Turolla, Eva Pompilii, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition|October 24, 2019
Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort studyLaurélia Jourdan-Voyen, Renaud Touraine, Jean-Pierre Masutti, et al.
Human Mutation|January 10, 2022
Targeted next-generation sequencing in a large series of fetuses with severe renal diseasesPenelope Jordan, Guillaume Dorval, Christelle Arrondel, et al.
Pageof 5