Search research articles
Contact Us
Filters
Showing results (1-10 of 18) with videos related to
Page
of 2
Sort By:
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
September 29, 2024
ENPP1 deficiency: almost ready for prime time!
Justine Bacchetta, Cyril Amouroux
European Urology
|
May 14, 2019
Should We Really Screen for Genital Variants Before Birth?
Nicolas Kalfa, Cyril Amouroux, Florent Fuchs, et al.
Journal of Clinical Research in Pediatric Endocrinology
|
October 27, 2018
Diazoxide Causality Assessment of a Pericardial Effusion in a Child with Kabuki Syndrome
Irene Maffre, Marie Vincenti, Fabienne Dalla Vale, et al.
European Journal of Human Genetics : EJHG
|
September 23, 2025
Expanding the molecular spectrum of aggrecanopathies: exploring 24 patients with ACAN significant variants
Melek Trigui, Nathalie Pallares-Ruiz, David Geneviève, et al.
Frontiers in Endocrinology
|
March 9, 2023
A novel <i>TBX19</i> gene mutation in patients with isolated ACTH deficiency from distinct families with a common geographical origin
Théo Charnay, Gregory Mougel, Cyril Amouroux, et al.
Frontiers in Pediatrics
|
September 12, 2022
Off-label use of cinacalcet in pediatric primary hyperparathyroidism: A French multicenter experience
Julie Bernardor, Sacha Flammier, Jean-Pierre Salles, et al.
Diagnostics (Basel, Switzerland)
|
December 30, 2025
Genetic Heterogeneity Underlying Familial Short Stature
Margot Comel, Mouna Barat-Houari, Fanny Alkar, et al.
European Journal of Human Genetics : EJHG
|
January 20, 2012
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay
Cyril Amouroux, Marie Vincent, Patricia Blanchet, et al.
JBMR Plus
|
October 1, 2025
Health-related quality of life in French pediatric patients with X-linked hypophosphatemia: real-world data from the International XLH Registry
Agnès Linglart, Cyril Amouroux, Iva Gueorguieva, et al.
European Journal of Medical Genetics
|
February 26, 2023
Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly
Quentin Sabbagh, Mylène Tharreau, Camille Cenni, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 18) with videos related to
Sort By:
Page
of 2
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
September 29, 2024
ENPP1 deficiency: almost ready for prime time!
Justine Bacchetta, Cyril Amouroux
European Urology
|
May 14, 2019
Should We Really Screen for Genital Variants Before Birth?
Nicolas Kalfa, Cyril Amouroux, Florent Fuchs, et al.
Journal of Clinical Research in Pediatric Endocrinology
|
October 27, 2018
Diazoxide Causality Assessment of a Pericardial Effusion in a Child with Kabuki Syndrome
Irene Maffre, Marie Vincenti, Fabienne Dalla Vale, et al.
European Journal of Human Genetics : EJHG
|
September 23, 2025
Expanding the molecular spectrum of aggrecanopathies: exploring 24 patients with ACAN significant variants
Melek Trigui, Nathalie Pallares-Ruiz, David Geneviève, et al.
Frontiers in Endocrinology
|
March 9, 2023
A novel <i>TBX19</i> gene mutation in patients with isolated ACTH deficiency from distinct families with a common geographical origin
Théo Charnay, Gregory Mougel, Cyril Amouroux, et al.
Frontiers in Pediatrics
|
September 12, 2022
Off-label use of cinacalcet in pediatric primary hyperparathyroidism: A French multicenter experience
Julie Bernardor, Sacha Flammier, Jean-Pierre Salles, et al.
Diagnostics (Basel, Switzerland)
|
December 30, 2025
Genetic Heterogeneity Underlying Familial Short Stature
Margot Comel, Mouna Barat-Houari, Fanny Alkar, et al.
European Journal of Human Genetics : EJHG
|
January 20, 2012
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay
Cyril Amouroux, Marie Vincent, Patricia Blanchet, et al.
JBMR Plus
|
October 1, 2025
Health-related quality of life in French pediatric patients with X-linked hypophosphatemia: real-world data from the International XLH Registry
Agnès Linglart, Cyril Amouroux, Iva Gueorguieva, et al.
European Journal of Medical Genetics
|
February 26, 2023
Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly
Quentin Sabbagh, Mylène Tharreau, Camille Cenni, et al.
Page
of 2