Detalhe da pesquisa
1.
Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS).
Am J Med Genet A
; 188(6): 1792-1800, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35238469
2.
Mosaic Small Supernumerary Marker Chromosome Derived from Five Discontinuous Regions of Chromosome 8 in a Patient with Neutropenia and Oral Aphthous Ulcer.
Cytogenet Genome Res
; 160(1): 11-17, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31982875
3.
Skin-Dominant Phenotype in a Patient with H Syndrome: Identification of a Novel Mutation in the SLC29A3 Gene.
Cytogenet Genome Res
; 151(4): 186-190, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28554179
4.
Clinical and radiologic evaluation of a Turkish family with hypochondroplasia and a rare FGFR3 variant.
J Pediatr Endocrinol Metab
; 35(8): 1097-1101, 2022 Aug 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35438268
5.
Genetic Analysis of RASD1 as a Candidate Gene for Schizophrenia
Balkan Med J
; 39(6): 422-428, 2022 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36305088
6.
Axenfeld-Rieger syndrome associated with truncus arteriosus: a case report.
Turk J Pediatr
; 49(4): 444-7, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-18246752
7.
Association Between N363S and BclI Polymorphisms of the Glucocorticoid Receptor Gene (NR3C1) and Glucocorticoid Side Effects During Childhood Acute Lymphoblastic Leukemia Treatment.
Turk J Haematol
; 34(2): 151-158, 2017 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28179212
8.
The role of genetic counseling on decisions of pregnant women aged 35 years or over regarding amniocentesis in Turkey.
Eur J Med Genet
; 48(1): 13-9, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-15953401
9.
Molecular spectrum of PIK3CA gene mutations in patients with nonsmall-cell lung cancer in Turkey.
Genet Test Mol Biomarkers
; 19(7): 353-8, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26053643
10.
Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development.
J Pediatr Endocrinol Metab
; 28(11-12): 1257-63, 2015 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26197461
11.
Bilateral choanal atresia in an adult woman with pycnodysostosis.
Congenit Anom (Kyoto)
; 57(3): 91-92, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27933642
12.
A novel TWIST1 gene mutation in a patient with Saethre-Chotzen syndrome.
Clin Dysmorphol
; 26(3): 175-178, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27870659
13.
The genotoxic effects of hepatitis B virus to host DNA.
Mutagenesis
; 20(2): 147-50, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15843391