Kolexia
Schluth-Bolard Caroline Génétique médicale
Schluth-Bolard Caroline
Génétique médicale
Hôpital Civil
Strasbourg, France
102 Activités
0 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Maladies chromosomiques Délétion de segment de chromosome Aberrations des chromosomes Trisomie Translocation génétique Malformations multiples Épilepsie Faciès

Collaborateurs

Voir plus
Sanlaville Damien
Sanlaville Damien
Hôpital Femme Mère Enfant, Bron, France
Chatron Nicolas
Chatron Nicolas
Hôpital Louis Pradel, Bron, France
Till Marianne
Till Marianne
Hôpital Femme Mère Enfant, Bron, France
Lesca Gaetan
Lesca Gaetan
Hôpital Femme Mère Enfant, Bron, France

Industries

Voir plus
{{person.topindus1.name}}
{{person.topindus1.tot}} collaboration(s)
Dernière en {{person.topindus1.last}}
{{person.topindus2.name}}
{{person.topindus2.tot}} collaboration(s)
Dernière en {{person.topindus2.last}}
{{person.topindus3.name}}
{{person.topindus3.tot}} collaboration(s)
Dernière en {{person.topindus3.last}}
{{person.topindus4.name}}
{{person.topindus4.tot}} collaboration(s)
Dernière en {{person.topindus4.last}}

Dernières activités

Voir plus
Turner-Ylc: Identification of Y Chromosome From Free Circulating DNA in Patients With Turner Syndrome
Essai Clinique (CHU Strasbourg)   05 mars 2024
LINE-1 retrotransposon insertion in RPS6KA3 as a cause of Coffin-Lowry syndrome
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Chromosomal rearrangement in the 22q11.2 region: a critical locus for sociability and attentional skills.
Psychiatric genetics   03 juillet 2023
2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review.
European journal of human genetics : EJHG   15 mai 2023
Whole genome sequencing for copy number variation and structural variant analyses
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Genetics in medicine : official journal of the American College of Medical Genetics   20 avril 2023
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Prenatal diagnosis   23 mars 2023
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.
Clinical genetics   19 janvier 2023
Delaying testicular sperm extraction in 47,XXY Klinefelter patients does not impair the sperm retrieval rate, and AMH levels are higher when TESE is positive.
Human reproduction (Oxford, England)   08 novembre 2022
10 years of CGH for epilepsy indication at the University Hospital of Lyon (France) – diagnostic yield, identified CNVs and strategy in the genome sequencing era
14\u003csup\u003eth\u003c/sup\u003e European Epilepsy Congress Geneva, Switzerland \u0026amp; Online 9–13 July 2022   16 septembre 2022