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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 23, 2025. (Total: 235602Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Syndrome and LAMA2[original query]
Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes.
JIMD reports 2015 23 91-100.
Komulainen Tuomas, Hautakangas Milla-Riikka, Hinttala Reetta, Pakanen Salla, Vähäsarja Vesa, Lehenkari Petri, Olsen Päivi, Vieira Päivi, Saarenpää-Heikkilä Outi, Palmio Johanna, Tuominen Hannu, Kinnunen Pietari, Majamaa Kari, Rantala Heikki, Uusimaa Johan
Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population.
Scientific reports 2016 6 29088.
Wang Yan, Peng Wei, Guo Hong-Yan, Li Hui, Tian Jie, Shi Yu-Jing, Yang Xiao, Yang Yao, Zhang Wan-Qiao, Liu Xin, Liu Guan-Nan, Deng Tao, Sun Yi-Min, Xing Wan-Li, Cheng Jing, Feng Zhi-Ch
Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families.
Neurogenetics 2024 1 .
Sylvia Safwat, Kyle P Flannery, Ahmed A El Beheiry, Mohamed M Mokhtar, Ebtesam Abdalla, M Chiara Manzi
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