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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Disease and ETFA[original query]
Clinical and genetic analysis of lipid storage myopathies.
Muscle & nerve 2009 Mar 39 (3): 333-42.
Ohkuma Aya, Noguchi Satoru, Sugie Hideo, Malicdan May Christine V, Fukuda Tokiko, Shimazu Kunio, López Luis Carlos, Hirano Michio, Hayashi Yukiko K, Nonaka Ikuya, Nishino Ichi
Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population.
Frontiers in genetics 2021 8 12 631688.
Tan Jianqiang, Chen Dayu, Chang Rongni, Pan Lizhen, Yang Jinling, Yuan Dejian, Huang Lihua, Yan Tizhen, Ning Haiping, Wei Jiangyan, Cai R
Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia.
Molecular genetics and metabolism 2024 6 142 (4): 108516.
Kalliope Demetriou, Janelle Nisbet, David Coman, Adam D Ewing, Liza Phillips, Sally Smith, Michelle Lipke, Anita Inwood, Janette Spicer, Catherine Atthow, Urs Wilgen, Thomas Robertson, Avis McWhinney, Rebecca Swenson, Brayden Espley, Brianna Snowdon, James J McGill, Kim M Summe
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