PMC Articles for MedGen (Select 863379) - PMC

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Items: 3

Select item 98717521.

Yan Gong, Xiao Ping Lan, Sheng Guo

Front Pediatr. 2022; 10: 1080664. Published online 2023 Jan 10. doi: 10.3389/fped.2022.1080664

PMCID:: PMC9871752

Abstract Article PDF–5.3M

Select item 88671572.

Genotype–phenotype correlation in IARS2‐related diseases: A case report and review of literature

Jariya Upadia, Yuwen Li, Nicolette Walano, Stephen Deputy, Kelly Gajewski, Hans C. Andersson

Clin Case Rep. 2022 Feb; 10(2): e05401. Published online 2022 Feb 24. doi: 10.1002/ccr3.5401

PMCID:: PMC8867157

Abstract Article PDF–1.2M

Select item 62332623.

Expanding the clinical phenotype of IARS2-related mitochondrial disease

Barbara Vona, Reza Maroofian, Emanuele Bellacchio, Maryam Najafi, Kyle Thompson, Ahmad Alahmad, Langping He, Najmeh Ahangari, Abolfazl Rad, Sima Shahrokhzadeh, Paulina Bahena, Falk Mittag, Frank Traub, Jebrail Movaffagh, Nafise Amiri, Mohammad Doosti, Reza Boostani, Ebrahim Shirzadeh, Thomas Haaf, Daria Diodato, Miriam Schmidts, Robert W. Taylor, Ehsan Ghayoor Karimiani

BMC Med Genet. 2018; 19: 196. Published online 2018 Nov 12. doi: 10.1186/s12881-018-0709-3