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European Journal of Neurology|November 6, 2012
Betamethasone therapy in ataxia telangiectasia: unraveling the rationale of this serendipitous observation on the basis of the pathogenesisG Giardino, A Fusco, R Romano, et al.Human Molecular Genetics|November 16, 2001
Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genesS Aradhya, T Bardaro, P Galgóczy, et al.Gene|March 18, 1997
Expressed STSs and transcription of human Xq28T Esposito, A Ciccodicola, L Flagiello, et al.Cureus|June 17, 2020
Immersive Virtual Reality Medical Simulation: Autonomous Trauma Training SimulatorKyle Couperus, Scott Young, Ryan Walsh, et al.Scientific Reports|July 7, 2026
The PROTECT databank a population based linked administrative resource on child maltreatment and intellectual disability with early findingsS Abou Chabake, J Dion, I Daigneault, et al.Human Molecular Genetics|October 9, 2001
A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutationsS Aradhya, H Woffendin, T Jakins, et al.Journal of Endocrinological Investigation|January 12, 2010
Epidemiological, clinical, and genetic characteristics of Paget's disease of bone in a rural area of Calabria, Southern ItalyD Rendina, F Gianfrancesco, G De Filippo, et al.European Journal of Human Genetics : EJHG|December 22, 1999
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutationsD De Brasi, T Esposito, M Rossi, et al.Neurogenetics|February 2, 2012
Confirmation that Xq27 and Xq28 are susceptibility loci for migraine in independent pedigrees and a case-control cohortB H Maher, M Kerr, H C Cox, et al.Clinical Genetics|January 25, 2018
Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylationF Napolitano, V Di Iorio, F Testa, et al.Pageof 5