Showing results (21-30 of 46) with videos related to

Sort By:
Pageof 5
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 20, 2018
2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseasesAnge-Line Bruel, Antonio Vitobello, Frédéric Tran Mau-Them, et al.
Human Mutation|January 10, 2022
Targeted next-generation sequencing in a large series of fetuses with severe renal diseasesPenelope Jordan, Guillaume Dorval, Christelle Arrondel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 3, 2017
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysisSophie Nambot, Julien Thevenon, Paul Kuentz, et al.
American Journal of Human Genetics|July 5, 2014
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of lifeJulien Thevenon, Mathieu Milh, François Feillet, et al.
Prenatal Diagnosis|March 14, 2023
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)Cécile Courdier, John Boudjarane, Valérie Malan, et al.
European Journal of Human Genetics : EJHG|September 24, 2015
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotypingSophie Nambot, Alice Masurel, Salima El Chehadeh, et al.
European Journal of Human Genetics : EJHG|April 26, 2019
Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive testsChristel Thauvin-Robinet, Julien Thevenon, Sophie Nambot, et al.
European Journal of Medical Genetics|August 16, 2017
Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnosesAurélie Bourchany, Christel Thauvin-Robinet, Daphné Lehalle, et al.
European Journal of Human Genetics : EJHG|May 16, 2022
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?Nicolas Bourgon, Aurore Garde, Ange-Line Bruel, et al.
Prenatal Diagnosis|March 11, 2015
Severe X-linked chondrodysplasia punctata in nine new female fetusesMathilde Lefebvre, Fabienne Dufernez, Ange-Line Bruel, et al.
Pageof 5