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Environmental Health Perspectives|January 28, 2014
GSTP1 and TNF Gene variants and associations between air pollution and incident childhood asthma: the traffic, asthma and genetics (TAG) studyElaina A MacIntyre, Michael Brauer, Erik Melén, et al.
European Journal of Human Genetics : EJHG|July 11, 2023
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 yearsPilar Guatibonza Moreno, Luba M Pardo, Catarina Pereira, et al.
American Journal of Human Genetics|August 15, 2023
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasiaPaulien Terhal, Anton J Venhuizen, Davor Lessel, et al.
Human Molecular Genetics|August 1, 2019
Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and miceAlistair T Pagnamenta, Pierre Heemeryck, Hilary C Martin, et al.
Environmental Health Perspectives|April 18, 2018
Maternal Smoking during Pregnancy and Early Childhood and Development of Asthma and Rhinoconjunctivitis - a MeDALL ProjectJesse D Thacher, Ulrike Gehring, Olena Gruzieva, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 17, 2025
RAB32-Linked Parkinson's Disease: Deep Phenotyping, MDSGene Literature Review, and Application of SynNeurGe CriteriaTeresa Kleinz, Francesco Cavallieri, Max Borsche, et al.
Brain : a Journal of Neurology|June 2, 2025
Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathwayYoko Hirano, Yuri Miyazaki, Daisuke Ishikawa, et al.
Research Square|October 7, 2024
The LRRK2 p.L1795F variant causes Parkinson's disease in the European populationLara M Lange, Kristin Levine, Susan H Fox, et al.
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