Muscle, Eye and Brain Disease: A New Syndrome
Author:
Publisher
Georg Thieme Verlag KG
Subject
Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health
Link
http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0028-1091594.pdf
Cited by 104 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Uniparental disomy for chromosome 1 with POMGNT1 splice-site variant causes muscle-eye-brain disease;Frontiers in Genetics;2023-06-05
2. The Finnish genetic heritage in 2022 – from diagnosis to translational research;Disease Models & Mechanisms;2022-10-01
3. Clinical and Molecular Spectrum of Muscular Dystrophies (MDs) with Intellectual Disability (ID): a Comprehensive Overview;Journal of Molecular Neuroscience;2021-11-02
4. Distrofias musculares congénitas;Revista Médica Clínica Las Condes;2018-09
5. NINDS Common Data Elements for Congenital Muscular Dystrophy Clinical Research: A National Institute for Neurological Disorders and Stroke Project;Journal of Neuromuscular Diseases;2018-02-21
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