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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Oct 6, 2024. (Total: 232244Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Neuromuscular Diseases 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
Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
Clinical genetics 2016 May .
Fattahi Zohreh, Kalhor Zahra, Fadaee Mahsa, Vazehan Raheleh, Parsimehr Elham, Abolhassani Ayda, Beheshtian Maryam, Zamani Gholamreza, Nafissi Shahriar, Nilipour Yalda, Akbari Mohammad R, Kahrizi Kimia, Kariminejad Ariana, Najmabadi Hosse
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