Kolexia
Gaillard Dominique
Génétique médicale
Hôpital Robert-Debré Reims
Reims, France
62 Activités
0 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Malformations multiples Délétion de segment de chromosome Malformations Déficience intellectuelle Syndromes oro-facio-digitaux Cardiopathies congénitales Obésité Syndrome de DiGeorge Maladies musculaires

Industries

Alexion
1 collaboration(s)
Dernière en 2017
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Dernières activités

Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?
European journal of human genetics : EJHG   16 mai 2022
RP-SEQ-HD: Clinical Implication of the Molecular Diagnostic Retinitis Pigmentosa Molecular Diagnostic Using High Throughput Sequencing (RP-SEQ-HD)
Essai Clinique (CHU Strasbourg)   19 avril 2022
Acide en poches ou distribution centralisée : quel impact environnemental ?
Congrès SFNDT 2021   01 septembre 2021
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.
Human genetics   26 août 2021
formation on 7q36.3 causes lung agenesis in three affected fetuses
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
Journal of medical genetics   30 juillet 2020
Genetics of Usher Syndrome: New Insights From a Meta-analysis.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology   13 janvier 2020
Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort study.
Archives of disease in childhood. Fetal and neonatal edition   22 octobre 2019
of new genes responsible for syndromic developmental abnormalities using whole exome sequencing
Abstracts from the 50th European Society of Human Genetics Conference   01 juillet 2019
correlation in Jeune thoracic dysplasia/short rib-polydactyly type III: review of 130 cases
Abstracts from the 50th European Society of Human Genetics Conference   01 juillet 2019