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La Revue Du Praticien|April 2, 2005
[X fragile syndrome; how to make a precocious diagnostic]Marion Gérard-Blanluet
Biochemical and Biophysical Research Communications|October 22, 2017
A 2 bp deletion in the mitochondrial ATP 6 gene responsible for the NARP (neuropathy, ataxia, and retinitis pigmentosa) syndromePatrick Mordel, Stéphane Schaeffer, Quentin Dupas, 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.
American Journal of Medical Genetics. Part A|November 18, 2014
The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short statureNolwenn Jean-Marçais, Matthieu Decamp, Marion Gérard, et al.
American Journal of Medical Genetics. Part A|August 19, 2004
Giant omphalocele and "prune belly" sequence as components of the Beckwith-Wiedemann syndromeMartine Sinico, Claudine Touboul, Bassam Haddad, et al.
Molecular Autism|June 29, 2012
High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sistersPauline Chaste, Catalina Betancur, Marion Gérard-Blanluet, et al.
Neurogenetics|June 16, 2021
Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problemsMinh-Tuan Huynh, Marion Gérard, Kara Ranguin, et al.
Microvascular Research|November 13, 2022
Structural and functional analysis of retinal vasculature in HANAC syndrome with a novel intronic COL4A1 mutationCéline Faure, Cindy Castrale, Anaïs Benabed, et al.
American Journal of Medical Genetics. Part A|March 22, 2005
Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twinsDominique Brémond-Gignac, Marion Gérard-Blanluet, Henri Copin, et al.
Prenatal Diagnosis|March 28, 2006
Prenatal phenotypic overlap of Costello syndrome and severe Noonan syndrome by tri-dimensional ultrasonographyJean-Marc Levaillant, Marion Gérard-Blanluet, Muriel Holder-Espinasse, et al.
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