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1.
Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.
Br J Haematol
; 2024 May 29.
Article
in English
| MEDLINE | ID: mdl-38811201
2.
Early diagnostic clues of mucolipidosis type II: Significance of radiological findings.
Am J Med Genet A
; 194(6): e63545, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38264826
3.
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.
Am J Hum Genet
; 106(3): 412-421, 2020 03 05.
Article
in English
| MEDLINE | ID: mdl-32142645
4.
A Novel Intronic Mutation Reduces HAX1 Level and is Associated With Severe Congenital Neutropenia.
J Pediatr Hematol Oncol
; 44(1): e62-e67, 2022 01 01.
Article
in English
| MEDLINE | ID: mdl-33560082
5.
Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles
Turk J Med Sci
; 51(2): 657-660, 2021 04 30.
Article
in English
| MEDLINE | ID: mdl-33197157
6.
Clinical findings and mutational spectrum of neurofibromatosis type 1 patients in a single center of south part of Turkey.
Turk J Med Sci
; 2021 Aug 16.
Article
in English
| MEDLINE | ID: mdl-34392670
7.
BRCA mutation characteristics in a series of index cases of breast cancer selected independent of family history.
Breast J
; 25(5): 1029-1033, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31228304
8.
IL-1RN VNTR, IL-2(-330), and IL-4 VNTR gene polymorphisms in patients with chronic rhinosinusitis with sinonasal polyposis
Turk J Med Sci
; 49(5): 1411-1417, 2019 Oct 24.
Article
in English
| MEDLINE | ID: mdl-31650822
9.
Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis.
Eur J Med Genet
; 66(6): 104764, 2023 Jun.
Article
in English
| MEDLINE | ID: mdl-37061027
10.
A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey.
Eur J Breast Health
; 19(3): 235-252, 2023 Jul.
Article
in English
| MEDLINE | ID: mdl-37415649
11.
Vandetanib in a Child Affected by Neurofibromatosis Type 1 and Medullary Thyroid Carcinoma with Both NF1 and Homozygous RET Proto-oncogen Germ-line Mutations
J Clin Res Pediatr Endocrinol
; 13(3): 342-346, 2021 08 23.
Article
in English
| MEDLINE | ID: mdl-32702947
12.
Familial hypertrophic cardiomyopathy: A case with a new mutation in the MYBPC3 gene.
Turk Kardiyol Dern Ars
; 45(5): 450-453, 2017 Jul.
Article
in English
| MEDLINE | ID: mdl-28694399
13.
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
Neuron
; 88(3): 499-513, 2015 Nov 04.
Article
in English
| MEDLINE | ID: mdl-26539891
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