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Autoimmunity Reviews|February 8, 2011
Pernicious anemia - genetic insightsSiddharth Banka, Kate Ryan, Wendy Thomson, et al.Orphanet Journal of Rare Diseases|June 14, 2013
A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutationsSiddharth Banka, William G NewmanJournal of Pediatric Hematology/Oncology|April 21, 2010
Early diagnosis and treatment of cobalamin deficiency of infancy owing to occult maternal pernicious anemiaSiddharth Banka, Ruth Roberts, Dianne Plews, et al.Journal of Human Genetics|November 22, 2018
A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general populationVíctor Faundes, Geraldine Malone, William G Newman, et al.American Journal of Medical Genetics. Part A|August 28, 2010
Mutations in the G6PC3 gene cause Dursun syndromeSiddharth Banka, William G Newman, R Koksal Ozgül, et al.Molecular Genetics and Metabolism|January 10, 2013
G6PC3 mutations cause non-syndromic severe congenital neutropeniaSiddharth Banka, Robert Wynn, Helen Byers, et al.Journal of Clinical Epidemiology|July 9, 2023
Assessment highlights need for improvement in standards of development of core outcome sets for rare genetic diseasesAndrada Ciucă, Siddharth Banka, William G Newman, 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.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.Pageof 58