Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
P. Callier
,
B. Aral
,
N. Hanna
,
S. Lambert
,
H. Dindy
et al.
Journal articles
hal-01068032v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?
F Coron
,
T Rousseau
,
G Jondeau
,
E Gautier
,
C Binquet
et al.
Journal articles
istex
hal-01120417v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
Genome sequencing for genetics diagnosis of patients with intellectual disability: the DEFIDIAG study
C Binquet
,
Catherine Lejeune
,
Laurence Faivre
,
Marion Bouctot
,
Marie-Laure Asensio
et al.
Journal articles
hal-03610031v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
DISSEQ: Double-blind Next-Generation-Sequencing technologies (exome and gene panel) in the diagnosis of a cohort of 330 patients with an intellectual disability: concordance, discrepancies, and efficiencies.
A. Bruel
,
B. Gerard
,
A. Piton
,
F. Tran Mau-Them
,
A. Sorlin
et al.
Journal articles
hal-03131626v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
Clinical and molecular spectrum of renal malformations in Kabuki syndrome
Jean-Benoît Courcet
,
Laurence Faivre
,
Caroline Michot
,
Antoine Burguet
,
Stéphanie Perez-Martin
et al.
Journal articles
hal-01064380v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
RANDOMIZED TRIAL TO EVALUATE THE SAFETY AND EFFICACY OF OUTPATIENT TREATMENTS IN INDIVIDUALS WITH COVID-19 WITH RISK FACTORS. COVERAGE FRANCE TRIAL: A STRUCTURED SUMMARY
Racha Onaisi
,
Alexandre Duvignaud
,
Antoine Nguyen Binh
,
Julie Dupouy
,
Julie Chastang
et al.
Exercer , 2021, 178, pp.451-458
Journal articles
inserm-03647560v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management
Magali Avila
,
David A. Dyment
,
Jørn V. Sagen
,
Judith St-Onge
,
Ute Moog
et al.
Journal articles
hal-01225503v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More
RECaP : réseau national de recherche en épidémiologie clinique et en santé publique
A. Verga-Gérard
,
S. Mathoulin-Pelissier
,
F. Chauvin
,
L. Huiart
,
S. Katsahian
et al.
Epidemiology and Public Health = Revue d'Epidémiologie et de Santé Publique , 2016, 10e Conférence Francophone d’Épidémiologie Clinique, 64, Supplement 3, pp.S160--S161.
⟨10.1016/j.respe.2016.03.107⟩
Journal articles
hal-01320754v1
Actions
Share
Gmail
Facebook
Twitter
LinkedIn
More