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American Journal of Medical Genetics. Part A|February 5, 2008
Clinical and radiographic delineation of odontochondrodysplasiaSheila Unger, Franco Antoniazzi, Milena Brugnara, et al.American Journal of Medical Genetics. Part A|January 12, 2020
Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathyFarah Kanani, Hannah Titheradge, Nicola Cooper, et al.American Journal of Medical Genetics. Part A|January 15, 2019
Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literatureRuth Cleaver, Jonathan Berg, Emily Craft, et al.Archives of Disease in Childhood|July 27, 2010
Autism, language and communication in children with sex chromosome trisomiesDorothy V M Bishop, Patricia A Jacobs, Katherine Lachlan, et al.Human Mutation|September 2, 2006
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndromeKyu-Seon Oh, Sikandar G Khan, N G J Jaspers, et al.Human Mutation|May 16, 2021
Dissection of contiguous gene effects for deletions around ERF on chromosome 19Eduardo Calpena, Simon J McGowan, Fiona Blanco Kelly, et al.Genetics and Molecular Biology|August 26, 2016
1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiencyNatália Duarte Linhares, Maíra Cristina Menezes Freire, Raony Guimarães Corrêa do Carmo Lisboa Cardenas, et al.Neuromuscular Disorders : NMD|April 26, 2011
King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) geneJames J Dowling, Suzanne Lillis, Kimberley Amburgey, et al.Molecular and Cellular Endocrinology|November 21, 2012
New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidismCintia E Citterio, Gloria A Machiavelli, Mirta B Miras, et al.Cell Stem Cell|April 16, 2019
Modeling the Pathological Long-Range Regulatory Effects of Human Structural Variation with Patient-Specific hiPSCsMagdalena Laugsch, Michaela Bartusel, Rizwan Rehimi, et al.Pageof 6