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Human Mutation|February 12, 2019
Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2Ellen F Macnamara, Alanna E Koehler, Precilla D'Souza, et al.Pediatric Blood & Cancer|May 12, 2026
Simple Interventions Can Improve Access to Autologous Stem Cell Transplant in Low- and Lower-Middle-Income Countries by Reducing Complexity, Lowering Costs, and Minimizing Infectious RisksDeepak Bansal, Swati Chandel, Rekha Hans, et al.Annals of Hematology|April 18, 2024
Pharmacogenetic guided versus standard warfarin dosing for routine clinical care with its pharmacoeconomic impact: a randomized controlled clinical trialAishwarya Anand, Naveen C Hegde, Pulkit Chhabra, et al.Cellular and Molecular Life Sciences : CMLS|January 27, 2023
LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and sizeJenny Serra-Vinardell, Maxwell B Sandler, Raffaella De Pace, et al.The Journal of Molecular Diagnostics : JMD|July 20, 2023
A Well-Curated Cost-Effective Next-Generation Sequencing Panel Identifies a Diverse Landscape of Pathogenic and Novel Germline Variants in a Bone Marrow Failure Cohort in a Resource-Constraint SettingSwetha Pallavelangini, Gnanamani Senguttuvan, Prateek Bhatia, et al.Molecular Genetics and Metabolism|December 12, 2018
Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patientsJoseph J Chin, Babak Behnam, Mariska Davids, et al.Journal of Nanobiotechnology|November 27, 2016
Generation of protective immunity against Orientia tsutsugamushi infection by immunization with a zinc oxide nanoparticle combined with ScaA antigenNa-Young Ha, Hyun Mu Shin, Prashant Sharma, et al.Leukemia & Lymphoma|June 14, 2022
Post-transplant cyclophosphamide pharmacokinetics and haploidentical hematopoietic cell transplantation outcomes: an exploratory studyKripa Shanker Kasudhan, Amol N Patil, Aditya Jandial, et al.Plos Genetics|May 25, 2019
Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotypePrashant Sharma, Marie Reichert, Yan Lu, et al.Annals of Hematology|December 8, 2019
Randomized controlled trial of twice-daily versus alternate-day oral iron therapy in the treatment of iron-deficiency anemiaRahul Kaundal, Prateek Bhatia, Arihant Jain, et al.Pageof 39