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Human Mutation|April 27, 2004
MLPA and MAPH: new techniques for detection of gene deletionsLoryn N Sellner, Graham R Taylor
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 26, 2016
An unusual neuroimaging finding and response to immunotherapy in a child with genetically confirmed vanishing white matter diseaseRahul Raman Singh, John Livingston, Ming Lim, et al.
Frontiers in Immunology|November 26, 2025
Case Report: A simple case of drug-induced secondary antibody deficiency or a rare primary immune deficiency?Sarah L Johnston, Julie C Evans, Ian R Berry, et al.
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society|February 16, 2006
Acute effects of C-peptide on gastric emptying in longstanding type 1 diabetesJulie E Stevens, Antonietta Russo, Carol A Delaney, et al.
Nature Medicine|May 31, 2024
Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disordersDaniel Greene, Chantal Thys, Ian R Berry, et al.
Human Mutation|August 31, 2006
Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous familiesIan M Carr, Kimberley J Flintoff, Graham R Taylor, et al.
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