Detalhe da pesquisa
1.
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss.
J Hum Genet
; 68(10): 657-669, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37217689
2.
Coronal craniosynostosis due to TCF12 mutations in patients from Turkey.
Am J Med Genet A
; 179(11): 2241-2245, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353793
3.
Initial regional evaluation of the Cystic Fibrosis Newborn Screening Program: data from the Mediterranean coast of Turkey
Turk J Med Sci
; 49(6): 1655-1661, 2019 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-31655510
4.
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.
Hum Genet
; 137(6-7): 479-486, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29982980
5.
A novel AXIN2 gene mutation in sagittal synostosis.
Am J Med Genet A
; 176(9): 1976-1980, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30088857
6.
Assessment of women who applied for the uterine transplant project as potential candidates for uterus transplantation.
J Obstet Gynaecol Res
; 41(1): 12-6, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25226847
7.
Perinatal Diagnostic Approach to Fetal Skeletal Dysplasias: Six Years Experience of a Tertiary Center.
Fetal Pediatr Pathol
; 34(5): 287-306, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26376227
8.
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2.
Eur J Hum Genet
; 32(6): 639-646, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38374469
9.
Novel Gene Variants Associated with Primary Ciliary Dyskinesia.
Indian J Pediatr
; 89(7): 682-691, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35239159
10.
Association Between Cystic Fibrosis Severity Markers and CFTR Genotypes in Turkish Children.
Turk Thorac J
; 22(6): 426-431, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35110256
11.
Final diagnosis in children with subclinical hypothyroidism and mutation analysis of the thyroid peroxidase gene (TPO).
J Pediatr Endocrinol Metab
; 22(9): 845-51, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19960894
12.
Recent Advances in Craniosynostosis.
Pediatr Neurol
; 99: 7-15, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31421914
13.
Clinical and genetic findings of two cases with Apert syndrome.
Bol Med Hosp Infant Mex
; 76(1): 44-48, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30657466
14.
Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia.
Mol Cytogenet
; 11: 13, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29434669
15.
Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing.
Hum Mutat
; 28(10): 1014-9, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17546645
16.
Normal sweat chloride test does not rule out cystic fibrosis.
Turk J Pediatr
; 59(1): 68-70, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29168366
17.
Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families.
Fertil Steril
; 108(1): 145-151.e2, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28600106
18.
Simultaneous suppression of epidermal growth factor receptor and c-erbB-2 reverses aneuploidy and malignant phenotype of a human ovarian carcinoma cell line.
Cancer Res
; 64(3): 789-94, 2004 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-14871800
19.
Novel human pathological mutations. Gene symbol: TPO. Disease: Thyroid peroxidase deficiency.
Hum Genet
; 127(1): 120, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20108397
20.
Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients.
Hum Mutat
; 24(4): 353, 2004 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-15365999