Search details
1.
Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Brain
; 146(12): 5098-5109, 2023 12 01.
Article
in English
| MEDLINE | ID: mdl-37516995
2.
High diagnostic yield of targeted next-generation sequencing panel as a first-tier molecular test for the patients with myopathy or muscular dystrophy.
Ann Hum Genet
; 87(3): 104-114, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36575883
3.
Impact of Inflammation-Related Genes on COVID-19: Prospective Study at Turkish Cohort.
Tohoku J Exp Med
; 261(3): 179-185, 2023 Nov 11.
Article
in English
| MEDLINE | ID: mdl-37635061
4.
The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum.
Ann Hum Genet
; 86(3): 119-126, 2022 05.
Article
in English
| MEDLINE | ID: mdl-34961929
5.
Contribution of Inherited Variants to Hereditary Cancer Syndrome Predisposition.
Tohoku J Exp Med
; 258(4): 319-325, 2022 11 22.
Article
in English
| MEDLINE | ID: mdl-36288950
6.
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Genet Med
; 23(11): 2138-2149, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34244665
7.
A novel deletion involving exon 13 of factor VIII gene in a newborn with splenic hematoma.
Transfus Apher Sci
; 59(1): 102562, 2020 Feb.
Article
in English
| MEDLINE | ID: mdl-31230948
8.
Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in GRN gene: case report and review of literature.
J Pediatr Endocrinol Metab
; 37(3): 280-288, 2024 Mar 25.
Article
in English
| MEDLINE | ID: mdl-38253347
9.
Comparison of the optical coherence tomography-angiography (OCT-A) vascular measurements between molecularly confirmed MODY and age-matched healthy controls.
Acta Diabetol
; 2024 Apr 02.
Article
in English
| MEDLINE | ID: mdl-38565685
10.
High diagnostic yield with algorithmic molecular approach on hereditary neuropathies.
Rev Assoc Med Bras (1992)
; 69(2): 233-239, 2023.
Article
in English
| MEDLINE | ID: mdl-36790232
11.
Two Patients Diagnosed as Succinate Dehydrogenase Deficiency: Case Report.
Mol Syndromol
; 14(2): 171-174, 2023 Apr.
Article
in English
| MEDLINE | ID: mdl-37064335
12.
Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome.
Turk J Pediatr
; 64(5): 956-963, 2022.
Article
in English
| MEDLINE | ID: mdl-36305450
13.
Frequency of germline BRCA1/2 mutations and association with clinicopathological characteristics in Turkish women with epithelial ovarian cancer.
Asia Pac J Clin Oncol
; 18(1): 84-92, 2022 Feb.
Article
in English
| MEDLINE | ID: mdl-33629534
14.
Predictive Factors for Molecular Response in Chronic Myeloid Leukemia: Reduction Ratio and Halving Time of BCR::ABL1 IS Transcript Levels
Turk J Haematol
; 39(3): 196-203, 2022 08 25.
Article
in English
| MEDLINE | ID: mdl-35620443
15.
Are angiotensin converting enzyme (ACE1/ACE2) gene variants associated with the clinical severity of COVID-19 pneumonia? A single-center cohort study.
Anatol J Cardiol
; 26(2): 133-140, 2022 02.
Article
in English
| MEDLINE | ID: mdl-35190362
16.
Acromesomelic dysplasia-Maroteaux type, nine patients with two novel NPR2 variants.
J Pediatr Endocrinol Metab
; 34(9): 1115-1121, 2021 Sep 27.
Article
in English
| MEDLINE | ID: mdl-34162036
17.
Huntington's disease in Turkey: genetic counseling, clinical features, and outcome.
Neurol Res
; 43(5): 381-386, 2021 May.
Article
in English
| MEDLINE | ID: mdl-33377823
18.
Hematopoietic stem cell transplantation complicated with EBV associated hemophagocytic lymphohistiocytosis in a patient with DOCK2 deficiency.
Turk J Pediatr
; 63(6): 1072-1077, 2021.
Article
in English
| MEDLINE | ID: mdl-35023658
19.
Severe isolated sulfide oxidase deficiency with a novel mutation.
Turk J Pediatr
; 63(4): 716-720, 2021.
Article
in English
| MEDLINE | ID: mdl-34449156
20.
Investigating the role of BEST1 and PRPH2 variants in the molecular aetiology of adult-onset vitelliform macular dystrophies.
Ophthalmic Genet
; 41(6): 585-590, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32942919