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Journal of Medical Genetics|September 21, 2023
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseasesNicole Weisschuh, Pascale Mazzola, Theresia Zuleger, et al.Genome Medicine|May 2, 2019
Multi-omics discovery of exome-derived neoantigens in hepatocellular carcinomaMarkus W Löffler, Christopher Mohr, Leon Bichmann, et al.Clinical Genetics|January 15, 2024
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian childrenNour Elkhateeb, Mahmoud Y Issa, Hasnaa M Elbendary, et al.European Journal of Epidemiology|July 25, 2013
Traffic, asthma and genetics: combining international birth cohort data to examine genetics as a mediator of traffic-related air pollution's impact on childhood asthmaElaina A MacIntyre, Christopher Carlsten, Meaghan MacNutt, et al.Journal of Neural Transmission (Vienna, Austria : 1996)|November 15, 2021
Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson's disease: mutational spectrum and clinical featuresJia Lun Lim, Katja Lohmann, Ai Huey Tan, et al.Movement Disorders : Official Journal of the Movement Disorder Society|May 17, 2005
Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patientsDaniela Berg, Marc Niwar, Sylvia Maass, et al.The Journal of Allergy and Clinical Immunology|February 14, 2013
Body mass index trajectory classes and incident asthma in childhood: results from 8 European Birth Cohorts--a Global Allergy and Asthma European Network initiativePeter Rzehak, Alet H Wijga, Thomas Keil, et al.Diagnostics (Basel, Switzerland)|September 9, 2023
Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF StudyFilipa Curado, Sabine Rösner, Susanne Zielke, et al.Brain : a Journal of Neurology|December 21, 2023
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamicsRaffaella De Pace, Reza Maroofian, Adeline Paimboeuf, et al.Allergy|November 24, 2022
Dietary digestible carbohydrates are associated with higher prevalence of asthma in humans and with aggravated lung allergic inflammation in miceStephanie Musiol, Carla P Harris, Ruth Karlina, et al.Pageof 67