Showing results (21-30 of 161) with videos related to
Sort By:
Pageof 17
Briefings in Bioinformatics|December 19, 2024
Higher order interaction analysis quantifies coordination in the epigenome revealing novel biological relationships in Kabuki syndromeSara Cuvertino, Terence Garner, Evgenii Martirosian, et al.Pediatric Rheumatology Online Journal|June 18, 2022
Monogenic disorders as mimics of juvenile idiopathic arthritisLaura Furness, Phil Riley, Neville Wright, et al.American Journal of Medical Genetics. Part A|December 8, 2022
Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequenceShalini S Nayak, Robert Harkness, Anju Shukla, et al.Muscle & Nerve|September 22, 2012
Corneal confocal microscopy detects small-fiber neuropathy in Charcot-Marie-Tooth disease type 1A patientsMitra Tavakoli, Andy Marshall, Siddharth Banka, et al.European Journal of Human Genetics : EJHG|August 19, 2010
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3Siddharth Banka, Elena Chervinsky, William G Newman, et al.Journal of Clinical Epidemiology|November 28, 2024
Patient-reported outcomes and measures are under-utilised in advanced therapy medicinal products trials for orphan conditionsAndrada Ciuca, Siddharth Banka, Tara Clancy, et al.Journal of Medical Genetics|April 11, 2024
Systematic reanalysis of copy number losses of uncertain clinical significanceGeorge J Burghel, Jamie M Ellingford, Ronnie Wright, et al.European Journal of Human Genetics : EJHG|May 20, 2026
Systematic mapping of rare genetic disease studies using UK primary care electronic health recordsThomas E B Wright, Hannah Slevin, Sinéad Magnier, et al.European Journal of Human Genetics : EJHG|May 31, 2024
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomesGerman Demidov, Steven Laurie, Annalaura Torella, et al.American Journal of Medical Genetics. Part A|March 21, 2019
Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBPSiddharth Banka, Rebecca Sayer, Catherine Breen, et al.Pageof 17