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Orphanet Journal of Rare Diseases|February 5, 2015
Cost effective assay choice for rare disease study designsDesmond D Campbell, Robert M Porsch, Stacey S Cherny, et al.Human Mutation|March 26, 2009
Novel mutations in VANGL1 in neural tube defectsZoha Kibar, Ciprian M Bosoi, Megan Kooistra, et al.Journal of Neurosurgical Sciences|October 28, 2016
Moyamoya vasculopathy shows a genetic mutational gradient decreasing from East to WestAlessandro Raso, Roberto Biassoni, Samantha Mascelli, et al.American Journal of Medical Genetics. Part A|April 15, 2008
No major role for the EMX2 gene in schizencephalyElisa Merello, Eric Swanson, Patrizia De Marco, et al.Human Mutation|March 10, 2017
Rare deleterious variants in GRHL3 are associated with human spina bifidaPhilippe Lemay, Patrizia De Marco, Alexandre Emond, et al.Birth Defects Research. Part A, Clinical and Molecular Teratology|April 19, 2016
Spinal lipoma as a dysembryogenetic anomaly: Four unusual cases of ectopic iliac rib within the spinal lipomaAndrea Accogli, Marco Pavanello, Patrizia Accorsi, et al.European Journal of Medical Genetics|June 29, 2011
A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-ocPatrizia De Marco, Alessandro Raso, Silvana Beri, et al.Molecular Cytogenetics|May 27, 2014
Constitutional chromosomal events at 22q11 and 15q26 in a child with a pilocytic astrocytoma of the spinal cordSamantha Mascelli, Mariasavina Severino, Alessandro Raso, 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.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.Pageof 5