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Frontiers in Endocrinology
|
May 23, 2019
Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion
Eloïse Giabicani, Sandra Chantot-Bastaraud, Adeline Bonnard, et al.
Clinical Genetics
|
February 6, 2020
LEF1 haploinsufficiency causes ectodermal dysplasia
Jonathan Lévy, Yline Capri, Myriam Rachid, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV
|
October 4, 2023
Expanding the phenotype of GTF2E2-associated trichothiodystrophy
Brian Sperelakis-Beedham, Lyse Ruaud, Yoann Vial, et al.
Annales De Biologie Clinique
|
April 6, 2017
Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone
Myriam Rachid, Sophie Dreux, Gauthier Pean de Ponfilly, et al.
European Journal of Medical Genetics
|
March 14, 2018
Pitfalls in molecular diagnosis of Friedreich ataxia
Giulia Barcia, Myriam Rachid, Maryse Magen, et al.
Prenatal Diagnosis
|
February 20, 2019
Prenatal diagnosis of fragile X syndrome: Small meiotic recombination events at the FMR1 locus
Séverine Bacrot, Sophie Monnot, Georges Haddad, et al.
Clinical Genetics
|
December 14, 2021
Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder
Jonathan Lévy, Guillaume Cogan, Anna Maruani, et al.
The Journal of Urology
|
December 20, 2019
Association of Maternal First Trimester Serum Levels of Free Beta Human Chorionic Gonadotropin and Hypospadias: A Population Based Study
Matthieu Peycelon, Nathalie Lelong, Léa Carlier, et al.
Clinical Genetics
|
June 27, 2021
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder
Jonathan Lévy, Bérénice Schell, Hala Nasser, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 9) with videos related to
Sort By:
Page
of 1
Frontiers in Endocrinology
|
May 23, 2019
Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion
Eloïse Giabicani, Sandra Chantot-Bastaraud, Adeline Bonnard, et al.
Clinical Genetics
|
February 6, 2020
LEF1 haploinsufficiency causes ectodermal dysplasia
Jonathan Lévy, Yline Capri, Myriam Rachid, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV
|
October 4, 2023
Expanding the phenotype of GTF2E2-associated trichothiodystrophy
Brian Sperelakis-Beedham, Lyse Ruaud, Yoann Vial, et al.
Annales De Biologie Clinique
|
April 6, 2017
Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone
Myriam Rachid, Sophie Dreux, Gauthier Pean de Ponfilly, et al.
European Journal of Medical Genetics
|
March 14, 2018
Pitfalls in molecular diagnosis of Friedreich ataxia
Giulia Barcia, Myriam Rachid, Maryse Magen, et al.
Prenatal Diagnosis
|
February 20, 2019
Prenatal diagnosis of fragile X syndrome: Small meiotic recombination events at the FMR1 locus
Séverine Bacrot, Sophie Monnot, Georges Haddad, et al.
Clinical Genetics
|
December 14, 2021
Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder
Jonathan Lévy, Guillaume Cogan, Anna Maruani, et al.
The Journal of Urology
|
December 20, 2019
Association of Maternal First Trimester Serum Levels of Free Beta Human Chorionic Gonadotropin and Hypospadias: A Population Based Study
Matthieu Peycelon, Nathalie Lelong, Léa Carlier, et al.
Clinical Genetics
|
June 27, 2021
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder
Jonathan Lévy, Bérénice Schell, Hala Nasser, et al.
Page
of 1