Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
Novel Gene Variants Associated with Primary Ciliary Dyskinesia.
Indian J Pediatr
; 89(7): 682-691, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35239159
5.
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
6.
Recent Advances in Craniosynostosis.
Pediatr Neurol
; 99: 7-15, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31421914
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
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
14.
The necessity of complete CFTR mutational analysis of an infertile couple before in vitro fertilization.
Fertil Steril
; 82(4): 947-9, 2004 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-15482777
15.
Detection of novel CFTR mutations in Taiwanese cystic fibrosis patients.
J Formos Med Assoc
; 102(5): 287-91, 2003 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-12874665
16.
Mitochondrial ATPase subunit 6 and cytochrome B gene variations in obese Turkish children.
J Clin Res Pediatr Endocrinol
; 6(4): 209-15, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25541891
17.
Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
Pediatr Neurol
; 50(5): 482-90, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24656465
18.
Clinical and genetic findings of two cases with Apert syndrome / Hallazgos clínicos y genéticos de dos casos con síndrome de Apert
Bol. méd. Hosp. Infant. Méx
; 76(1): 44-48, ene.-feb. 2019. graf
Artigo
em Inglês
| LILACS | ID: biblio-1038890
19.
Analysis of TPO gene in Turkish children with iodide organification defect: identification of a novel mutation.
Endocrine
; 37(1): 124-8, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20963560
20.
Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens.
Hum Reprod
; 20(9): 2470-5, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-15905293