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Arnaud Molin

Showing results (11-20 of 50) with videos related to

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JCI Insight|September 2, 2025
Defective GNAS imprinting due to splice site variants in pseudohypoparathyroidism type 1BYorihiro Iwasaki, Monica Reyes, Arnaud Molin, et al.
American Journal of Medical Genetics. Part A|October 26, 2023
Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature reviewAlexia Bourgois, Varoona Bizaoui, Cindy Colson, et al.
The Journal of Clinical Investigation|January 16, 2025
Fgfr3 enhancer deletion markedly improves all skeletal features in a mouse model of achondroplasiaMarco Angelozzi, Arnaud Molin, Anirudha Karvande, et al.
Journal of Pediatric Urology|June 29, 2020
The interest of oral calcium loads test in the diagnosis and management of pediatric nephrolithiasis with hypercalciuria: Experience from a tertiary pediatric centreMélodie Mosca, Aurélia Bertholet-Thomas, Sandrine Lemoine, et al.
Frontiers in Pediatrics|November 25, 2021
Intermittent Bi-Daily Sub-cutaneous Teriparatide Administration in Children With Hypoparathyroidism: A Single-Center ExperienceJulie Bernardor, Sacha Flammier, Sara Cabet, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition|June 30, 2016
Changes in fetal autopsy patterns over a 10-year periodFrédérique Jones, Pascal Thibon, Corinne Jeanne-Pasquier, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|July 7, 2026
Abnormal position of a GNAS methylation regulatory element causes autosomal dominant pseudohypoparathyroidism type 1B (PHP1B)Andreea Apetrei, Nicolas Richard, Yorihiro Iwasaki, et al.
Bone Reports|May 17, 2021
A novel synonymous variant in exon 1 of <i>GNAS</i> gene results in a cryptic splice site and causes pseudohypoparathyroidism type 1A and pseudo-pseudohypoparathyroidism in a French familyAndreea Apetrei, Arnaud Molin, Nicolas Gruchy, et al.
Pediatric Nephrology (Berlin, Germany)|July 1, 2018
Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutationsMarguerite Hureaux, Arnaud Molin, Nadine Jay, et al.
European Journal of Medical Genetics|November 14, 2018
Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile HypercalcemiaArnaud Molin, Marie Nowoczyn, Nadia Coudray, et al.
Pageof 5

Showing results (11-20 of 50) with videos related to

Sort By:
Pageof 5
JCI Insight|September 2, 2025
Defective GNAS imprinting due to splice site variants in pseudohypoparathyroidism type 1BYorihiro Iwasaki, Monica Reyes, Arnaud Molin, et al.
American Journal of Medical Genetics. Part A|October 26, 2023
Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature reviewAlexia Bourgois, Varoona Bizaoui, Cindy Colson, et al.
The Journal of Clinical Investigation|January 16, 2025
Fgfr3 enhancer deletion markedly improves all skeletal features in a mouse model of achondroplasiaMarco Angelozzi, Arnaud Molin, Anirudha Karvande, et al.
Journal of Pediatric Urology|June 29, 2020
The interest of oral calcium loads test in the diagnosis and management of pediatric nephrolithiasis with hypercalciuria: Experience from a tertiary pediatric centreMélodie Mosca, Aurélia Bertholet-Thomas, Sandrine Lemoine, et al.
Frontiers in Pediatrics|November 25, 2021
Intermittent Bi-Daily Sub-cutaneous Teriparatide Administration in Children With Hypoparathyroidism: A Single-Center ExperienceJulie Bernardor, Sacha Flammier, Sara Cabet, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition|June 30, 2016
Changes in fetal autopsy patterns over a 10-year periodFrédérique Jones, Pascal Thibon, Corinne Jeanne-Pasquier, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|July 7, 2026
Abnormal position of a GNAS methylation regulatory element causes autosomal dominant pseudohypoparathyroidism type 1B (PHP1B)Andreea Apetrei, Nicolas Richard, Yorihiro Iwasaki, et al.
Bone Reports|May 17, 2021
A novel synonymous variant in exon 1 of <i>GNAS</i> gene results in a cryptic splice site and causes pseudohypoparathyroidism type 1A and pseudo-pseudohypoparathyroidism in a French familyAndreea Apetrei, Arnaud Molin, Nicolas Gruchy, et al.
Pediatric Nephrology (Berlin, Germany)|July 1, 2018
Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutationsMarguerite Hureaux, Arnaud Molin, Nadine Jay, et al.
European Journal of Medical Genetics|November 14, 2018
Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile HypercalcemiaArnaud Molin, Marie Nowoczyn, Nadia Coudray, et al.
Pageof 5