Showing results (11-20 of 19) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 19 results.
European Journal of Human Genetics : EJHG|May 15, 2023
2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature reviewMalek Bouassida, Matthieu Egloff, Jonathan Levy, et al.
Cytogenetic and Genome Research|January 7, 2016
A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic TestValérie Malan, Jean-Michel Lapierre, Matthieu Egloff, et al.
Clinical Genetics|December 28, 2022
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombinationJulie Masson, Céline Pebrel-Richard, Matthieu Egloff, et al.
Journal of Medical Genetics|September 17, 2025
Heterozygous alterations of GTF2I at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorderJeanne Jury, Thomas Besnard, Wallid Deb, et al.
American Journal of Medical Genetics. Part A|October 5, 2022
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndromeGuillaume Jouret, Matthieu Egloff, Emilie Landais, et al.
Journal of Medical Genetics|February 24, 2026
Phenotypic description of a large French series of individuals with Potocki-Lupski syndromeAlicia Coudert, Pauline Le Tanno, William Dufour, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 31, 2023
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouseAnne-Sophie Denommé-Pichon, Stephan C Collins, Ange-Line Bruel, et al.
American Journal of Medical Genetics. Part A|February 29, 2024
3q29 duplications: A cohort of 46 patients and a literature reviewMarie Massier, Martine Doco-Fenzy, Matthieu Egloff, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2024
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizuresMariagrazia Talarico, Julitta de Bellescize, Matthias De Wachter, et al.
Pageof 2