Publications by authors named "Atieh Eslahi"

8Publications

NR1H4-related Progressive Familial Intrahepatic Cholestasis 5: Further Evidence for Rapidly Progressive Liver Failure.

J Pediatr Gastroenterol Nutr 2020 06;70(6):e111-e113

Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX.

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http://dx.doi.org/10.1097/MPG.0000000000002670DOI Listing
June 2020

Investigation of MYO15A and MYO7A Mutations in Iranian Patients with Nonsyndromic Hearing Loss.

Fetal Pediatr Pathol 2020 Jan 30:1-10. Epub 2020 Jan 30.

Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

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http://dx.doi.org/10.1080/15513815.2019.1686790DOI Listing
January 2020

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.

Acta Neuropathol 2020 03 9;139(3):415-442. Epub 2019 Dec 9.

Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00401-019-02109-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7035241PMC
March 2020

Targeted Mutation Analysis of the SLC26A4, MYO6, PJVK and CDH23 Genes in Iranian Patients with AR Nonsyndromic Hearing Loss.

Fetal Pediatr Pathol 2019 Apr 23;38(2):93-102. Epub 2018 Dec 23.

d Department of Medical Genetics , Mashhad University of Medical Sciences , Mashhad , Iran.

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http://dx.doi.org/10.1080/15513815.2018.1547336DOI Listing
April 2019