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Journal of Neuro-Oncology|June 7, 2025
A prospective study of minimally invasive keyhole craniotomy and stereotactic brachytherapy for new brain oligometastasesSmruti Mahapatra, Laurel Seltzer, Neydin Osorio, et al.Clinical Genetics|May 7, 2016
Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual developmentA-C Thuresson, G Van Buggenhout, F Sheth, et al.Journal of Medical Genetics|December 1, 1992
Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13T Webb, J Clayton-Smith, X J Cheng, et al.Journal of Medical Genetics|November 1, 1993
Molecular mechanisms in Angelman syndrome: a survey of 93 patientsC T Chan, J Clayton-Smith, X J Cheng, et al.Archives of Disease in Childhood|July 17, 2012
Diagnosing fetal alcohol syndrome: new insights from newer genetic technologiesSofia Douzgou, Catherine Breen, Yanick J Crow, et al.The British Journal of Ophthalmology|August 1, 1997
Anterior segment dysgenesis in mosaic Turner syndromeI C Lloyd, P M Haigh, J Clayton-Smith, et al.American Journal of Medical Genetics. Part A|February 18, 2017
Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literatureAnna Le Fevre, Jasmin Beygo, Cheryl Silveira, et al.JIMD Reports|August 12, 2018
Lathosterolosis: A Relatively Mild Case with Cataracts and Learning DifficultiesR Anderson, S Rust, J Ashworth, et al.The Journal of Clinical Endocrinology and Metabolism|March 18, 2015
Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversalBryan Haines, James Hughes, Mark Corbett, et al.Clinical Genetics|September 24, 2017
Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowthJ H McDermott, N Hickson, I Banerjee, et al.Pageof 36