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Neurology|July 23, 2003
D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detectionR J L F Lemmers, M Osborn, T Haaf, et al.
Journal of Child Psychology and Psychiatry, and Allied Disciplines|February 11, 2020
Deconstructing the repetitive behaviour phenotype in autism spectrum disorder through a large population-based analysisMirko Uljarević, Matthew N Cooper, Keely Bebbington, et al.
Ophthalmology|August 21, 2009
Complement factor H Y402H and C-reactive protein polymorphism and photodynamic therapy response in age-related macular degenerationXuefeng Feng, Jing Xiao, Brooke Longville, et al.
American Journal of Human Genetics|December 11, 2012
Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencingYali Xue, Yuan Chen, Qasim Ayub, et al.
Scientific Reports|March 29, 2014
Tumor lysing genetically engineered T cells loaded with multi-modal imaging agentsParijat Bhatnagar, Mian Alauddin, James A Bankson, et al.
Human Genetics|June 30, 2020
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research settingPeter D Stenson, Matthew Mort, Edward V Ball, et al.
Cellular and Molecular Gastroenterology and Hepatology|April 10, 2022
The CEL-HYB1 Hybrid Allele Promotes Digestive Enzyme Misfolding and Pancreatitis in MiceXiao-Tong Mao, Wen-Bin Zou, Yu Cao, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|January 9, 2013
Bispecific T-cells expressing polyclonal repertoire of endogenous γδ T-cell receptors and introduced CD19-specific chimeric antigen receptorDrew C Deniger, Kirsten Switzer, Tiejuan Mi, et al.
Orphanet Journal of Rare Diseases|February 16, 2013
New clinical and molecular insights on Barth syndromeLorenzo Ferri, Maria Alice Donati, Silvia Funghini, et al.
BMC Medical Genetics|October 12, 2018
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a diseaseAnna Caciotti, Rodolfo Tonin, Matthew Mort, et al.
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