Nurten A. Akarsu
Ankara, Turkey
Last Updated: 09/26/2026
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Found 23 publications
Correction to: Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.
Journal: Journal of clinical immunology
Published: May 02, 2022
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Journal: American journal of human genetics
Published: July 02, 2021
Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.
Journal: Journal of clinical immunology
Published: June 08, 2021
One Disease with two Faces: Semidominant Inheritance of a Novel HTRA1 Mutation in a Consanguineous Family.
Journal: Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association
Published: May 11, 2021
HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia.
Journal: Blood
Published: March 25, 2021
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Journal: American journal of human genetics
Published: March 19, 2021
Long-Term Follow-Up Outcomes of 19 Patients with Osteogenesis Imperfecta Type XI and Bruck Syndrome Type I Caused by FKBP10 Variants.
Journal: Calcified tissue international
Published: March 16, 2021
Defining mitochondrial protein functions through deep multiomic profiling.
Journal: Nature
Published: January 19, 2021
Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives.
Journal: Molecular genetics and metabolism reports
Published: August 11, 2020
Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: May 02, 2018
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.
Journal: The Journal of clinical investigation
Published: January 23, 2017
Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome.
Journal: European journal of human genetics : EJHG
Published: July 29, 2016
Last Updated: 09/26/2026