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Journal of Medical Genetics|November 6, 2021
Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplexRuth J Falb, Amelie J Müller, Wolfram Klein, et al.Brain : a Journal of Neurology|February 22, 2024
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformationsLucia Laugwitz, Fubo Cheng, Stephan C Collins, et al.Medrxiv : the Preprint Server for Health Sciences|January 31, 2024
A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinaseEmil K Gustavsson, Jordan Follett, Joanne Trinh, et al.Frontiers in Neurology|July 14, 2020
Genetic Architecture of Parkinson's Disease in the Indian Population: Harnessing Genetic Diversity to Address Critical Gaps in Parkinson's Disease ResearchRoopa Rajan, K P Divya, Rukmini Mridula Kandadai, et al.Nature Communications|March 14, 2020
Cancer immune control needs senescence induction by interferon-dependent cell cycle regulator pathways in tumoursEllen Brenner, Barbara F Schörg, Fatima Ahmetlić, et al.Journal of Medical Genetics|March 26, 2018
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspringMatthias Begemann, Faisal I Rezwan, Jasmin Beygo, et al.Parkinsonism & Related Disorders|May 20, 2023
Genetic study of early-onset Parkinson's disease in the Malaysian populationYi Wen Tay, Ai Huey Tan, Jia Lun Lim, et al.Human Genetics|July 19, 2006
Genetic analysis of candidate genes modifying the age-at-onset in Huntington's diseaseSilke Metzger, Peter Bauer, Jürgen Tomiuk, et al.Science (New York, N.Y.)|June 15, 2013
Genome-wide comparison of medieval and modern Mycobacterium lepraeVerena J Schuenemann, Pushpendra Singh, Thomas A Mendum, et al.Nature Communications|September 12, 2020
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphologySahar Elouej, Karim Harhouri, Morgane Le Mao, et al.Pageof 67