Kolexia
Alanio-Detton Elisabeth
Médecine générale
Maison Blanche
Reims, France
16 Activités
3 Followers

Scientifique
Digital
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Activités par an
Expertise
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{{person.topmesh1.name}} Malformations multiples Laparoschisis Syndrome de Bardet-Biedl Arthrogrypose Malformations Naissance prématurée Lissencéphalie Cardiopathies congénitales Poids de naissance

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Dernières activités

Intra-uterine fetal death in Meier-Gorlin Syndrome due to compound heterozygous variants of ORC6 gene with a novel mutation: a case report
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.
Clinical genetics   03 août 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
Antenatal presentation of Bardet-Biedl syndrome: the question of phenotype-genotype correlations
Abstracts from the 51st European Society of Human Genetics (ESHG) Conference, in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)   01 juillet 2019
Gastroschisis: Prenatal ultrasonography and obstetrical criteria for predicting neonatal outcome.
Gynecologie, obstetrique & fertilite   24 août 2016
Umbilicus in children.
Annales de chirurgie plastique et esthetique   08 juin 2016
Autosomal recessive mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita
20th International Congress of The World Muscle Society   01 octobre 2015
Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita.
American journal of human genetics   21 mai 2015
Fetal phenotype associated with the 22q11 deletion.
American journal of medical genetics. Part A   08 août 2014
Recurrent prenatally diagnosed isolated bilateral pulmonary agenesis.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology   15 novembre 2012