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European Journal of Human Genetics : EJHG|April 3, 2019
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled femalesMarcello Scala, Annalaura Torella, Mariasavina Severino, et al.Molecular Genetics & Genomic Medicine|November 12, 2018
Whole exome sequencing identifies novel predisposing genes in neural tube defectsPhilippe Lemay, Patrizia De Marco, Monica Traverso, et al.The New England Journal of Medicine|April 6, 2007
Mutations in VANGL1 associated with neural-tube defectsZoha Kibar, Elena Torban, Jonathan R McDearmid, et al.Journal of Neuro-Oncology|July 24, 2012
Analysis of NADP+-dependent isocitrate dehydrogenase-1/2 gene mutations in pediatric brain tumors: report of a secondary anaplastic astrocytoma carrying the IDH1 mutationSamantha Mascelli, Alessandro Raso, Roberto Biassoni, et al.BMC Medical Genetics|December 24, 2016
Sacral agenesis: a pilot whole exome sequencing and copy number studyRobert M Porsch, Elisa Merello, Patrizia De Marco, et al.Human Mutation|June 30, 2009
Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controlsPeriklis Makrythanasis, Philipp Kapranov, Lucia Bartoloni, et al.Brain Pathology (Zurich, Switzerland)|October 30, 2010
Mutation analysis of CCM1, CCM2 and CCM3 genes in a cohort of Italian patients with cerebral cavernous malformationRosalia D'Angelo, Valeria Marini, Carmela Rinaldi, et al.American Journal of Medical Genetics. Part A|March 27, 2020
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entityMargaux Serey-Gaut, Marcello Scala, Bruno Reversade, et al.International Journal of Molecular Sciences|December 17, 2024
Multiple Tumors in a Patient with Interleukin-2-Inducible T-Cell Kinase Deficiency: A Case ReportMichela Di Filippo, Ramona Tallone, Monica Muraca, et al.American Journal of Medical Genetics. Part A|February 6, 2024
Expanding the phenotype of UPF3B-related disorder: Case reports and literature reviewFerruccio Romano, Maria K Haanpää, Pawel Pomianowski, et al.Pageof 18