PMC Links for OMIM (Select 600709) - PMC

Select item 56399251.

Bi-allelic IARS Mutations in a Child with Intra-Uterine Growth Retardation, Neonatal Cholestasis, and Mild Developmental Delay

Naama Orenstein, Karin Weiss, Stephanie N. Oprescu, Rivka Shapira, Dvora Kidron, Lina Vanagaite-Basel, Anthony Antonellis, Maximilian Muenke

Clin Genet. Author manuscript; available in PMC 2018 Jun 1.

Published in final edited form as: Clin Genet. 2017 Jun; 91(6): 913–917. Published online 2017 Feb 22. doi: 10.1111/cge.12930

PMCID:: PMC5639925

Abstract Article PDF–718K

Select item 49740652.

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

Robert Kopajtich, Kei Murayama, Andreas R. Janecke, Tobias B. Haack, Maximilian Breuer, A.S. Knisely, Inga Harting, Toya Ohashi, Yasushi Okazaki, Daisaku Watanabe, Yoshimi Tokuzawa, Urania Kotzaeridou, Stefan Kölker, Sven Sauer, Matthias Carl, Simon Straub, Andreas Entenmann, Elke Gizewski, René G. Feichtinger, Johannes A. Mayr, Karoline Lackner, Tim M. Strom, Thomas Meitinger, Thomas Müller, Akira Ohtake, Georg F. Hoffmann, Holger Prokisch, Christian Staufner

Am J Hum Genet. 2016 Aug 4; 99(2): 414–422. Published online 2016 Jul 14. doi: 10.1016/j.ajhg.2016.05.027

PMCID:: PMC4974065

Abstract Article PDF–1.2M

Select item 41886293.

Human tRNA Synthetase Catalytic Nulls with Diverse Functions

Wing-Sze Lo, Elisabeth Gardiner, Zhiwen Xu, Ching-Fun Lau, Feng Wang, Jie Zhou, John D. Mendlein, Leslie A. Nangle, Kyle P. Chiang, Xiang-Lei Yang, Kin-Fai Au, Wing Hung Wong, Min Guo, Mingjie Zhang, Paul Schimmel

Science. Author manuscript; available in PMC 2015 Jan 18.

Published in final edited form as: Science. 2014 Jul 18; 345(6194): 328–332. doi: 10.1126/science.1252943

PMCID:: PMC4188629

Abstract Article PDF–1.2M

Select item 36603084.

Mapping and Exome Sequencing Identifies a Mutation in the IARS Gene as the Cause of Hereditary Perinatal Weak Calf Syndrome

Takashi Hirano, Naohiko Kobayashi, Tamako Matsuhashi, Daisaku Watanabe, Toshio Watanabe, Akiko Takasuga, Mayumi Sugimoto, Yoshikazu Sugimoto

PLoS One. 2013; 8(5): e64036. Published online 2013 May 21. doi: 10.1371/journal.pone.0064036

PMCID:: PMC3660308

Abstract Article PDF–946K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from OMIM

Items: 4

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity