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The Journal of Clinical Investigation|January 13, 2022
RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1Bassam Abu-Libdeh, Satpal S Jhujh, Srijita Dhar, et al.
Familial Cancer|November 15, 2024
The genetic landscape of Lynch syndrome in the Israeli populationAasem Abu Shtaya, Sofia Naftaly Nathan, Inbal Kedar, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 14, 2014
The relationship between obsessive-compulsive symptoms and PARKIN genotype: The CORE-PD studyMadeleine E Sharp, Elise Caccappolo, Helen Mejia-Santana, et al.
Annals of Internal Medicine|November 7, 2022
Oral ENT-01 Targets Enteric Neurons to Treat Constipation in Parkinson Disease : A Randomized Controlled TrialMichael Camilleri, Thyagarajan Subramanian, Fernando Pagan, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|May 7, 2026
B-cell Maturation Antigen Targeted Chimeric Antigen Receptor T-cell Therapy for Refractory Systemic Lupus Erythematosus and Systemic SclerosisShlomit Kfir-Erenfeld, Shlomo Elias, Nathalie Asherie, et al.
Human Mutation|June 19, 2019
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countriesYael Laitman, Tara M Friebel, Drakoulis Yannoukakos, et al.
Neurology|March 24, 2012
Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD studyR N Alcalay, E Caccappolo, H Mejia-Santana, et al.
The Lancet. Neurology|September 18, 2015
Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort studyHeike Jacobi, Sophie Tezenas du Montcel, Peter Bauer, et al.
JAMA Neurology|November 6, 2013
Cognitive and motor function in long-duration PARKIN-associated Parkinson diseaseRoy N Alcalay, Elise Caccappolo, Helen Mejia-Santana, et al.
European Journal of Cancer (Oxford, England : 1990)|April 29, 2025
Assisted reproductive technology in young BRCA carriers with a pregnancy after breast cancer: An international cohort studyIsotta Martha Magaton, Eva Blondeaux, Anne-Sophie Hamy, et al.
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