Kolexia
Amblard Florence Génétique médicale
Amblard Florence
Génétique médicale
Hôpital Nord Grenoble
La Tronche, France
34 Activités
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{{person.topmesh1.name}} Déficience intellectuelle Translocation génétique Cardiopathies congénitales Duplication chromosomique Infertilité Trisomie Syndrome de Williams Infertilité masculine Faciès

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Satre Veronique
Satre Veronique
Hôpital Nord Grenoble, La Tronche, France
Devillard Francoise
Devillard Francoise
Hôpital Nord Grenoble, La Tronche, France
Coutton Charles
Coutton Charles
Hôpital Nord Grenoble, La Tronche, France
Jouk Pierre-Simon
Jouk Pierre-Simon
Hôpital Nord Grenoble, La Tronche, France

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Dernières activités

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Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
American journal of medical genetics. Part A   16 novembre 2023
Florence Amblard on Reels | Nina Simone · Feeling Good - Facebook
Facebook   29 septembre 2023
Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry.
International journal of molecular sciences   11 février 2023
Hier soir, après la... - Soroptimist International Grenoble - Facebook
Facebook   05 avril 2022
What is the best solution to manage failures of chromosomal structural variations detection by short-read strategy?
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
Journal of medical genetics   28 mars 2019
A specialised consultation for children and young adults with trisomy 21.
Soins. Pediatrie, puericulture   08 novembre 2018
Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction.
Clinical genetics   17 octobre 2018
Is sperm FISH analysis still useful for Robertsonian translocations? Meiotic analysis for 23 patients and review of the literature.
Basic and clinical andrology   07 mai 2018
haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans.
Journal of medical genetics   07 mars 2017