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Prenatal Diagnosis|January 7, 2025
Exome Sequencing of Fetuses With Intracranial Hemorrhage Unravels Novel Causative Genes and an Extreme Genetic HeterogeneityThibault Coste, Chaker Aloui, Justine Chanclud, et al.Human Mutation|June 30, 2020
Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation abilityGodelieve Morel, Céline Duhamel, Simon Boussion, et al.Molecular Cytogenetics|June 9, 2016
Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?Malgorzata I Srebniak, Laura J C M van Zutven, Florence Petit, et al.Nature Communications|May 18, 2022
Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical developmentDelfina M Romero, Karine Poirier, Richard Belvindrah, et al.European Journal of Medical Genetics|September 1, 2022
TRIT1 deficiency: Two novel patients with four novel variantsThomas Smol, Perrine Brunelle, Roseline Caumes, et al.The Journal of Pathology|December 3, 2021
Estradiol promotes cell survival and induces Greb1 expression in granulosa cell tumors of the ovary through an ERα-dependent mechanismVictoria Cluzet, Marie M Devillers, Florence Petit, et al.Human Mutation|October 12, 2013
Congenital heart defects in patients with deletions upstream of SOX9Marta Sanchez-Castro, Christopher T Gordon, Florence Petit, et al.Journal of Medical Genetics|March 5, 2017
Bi-allelic variants in <i>COL3A1</i> encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cystsLaura Vandervore, Katrien Stouffs, Ibrahim Tanyalçin, et al.Journal of Medical Genetics|July 10, 2012
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromesClaire Redin, Stéphanie Le Gras, Oussema Mhamdi, et al.European Journal of Medical Genetics|October 16, 2012
Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotypeBénédicte Demeer, Joris Andrieux, Aline Receveur, et al.Pageof 15