Detalhe da pesquisa
1.
The clinical phenotype of Koolen-de Vries syndrome in Turkish patients and literature review.
Am J Med Genet A;
191(7): 1814-1825, 2023 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37053206
2.
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.
Funct Integr Genomics;
22(3): 291-315, 2022 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35098403
3.
Coexistence of a Homozygous Chromosome 4q35.2 Deletion and Hidden IQSEC2 Pathogenic Variant in a Child with Intellectual Disability.
Cytogenet Genome Res;
161(3-4): 153-159, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34229322
4.
Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience.
J Hum Genet;
66(6): 585-596, 2021 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33288834
5.
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey.
Am J Med Genet A;
185(8): 2488-2495, 2021 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33987976
6.
A clinical scoring system for congenital contractural arachnodactyly.
Genet Med;
22(1): 124-131, 2020 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31316167
7.
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
PLoS Genet;
13(3): e1006683, 2017 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28346496
8.
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
9.
A subset of patients with acquired partial lipodystrophy developing severe metabolic abnormalities.
Endocr Res;
44(1-2): 46-54, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30182761
10.
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
11.
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
12.
Bone mineral density in patients with mucopolysaccharidosis type III.
J Bone Miner Metab;
35(3): 338-343, 2017 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27193466
13.
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
14.
Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome.
Am J Med Genet A;
161A(9): 2311-5, 2013 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23913624
15.
Expanding the clinical and molecular features of trichorhino- phalangeal syndrome with a novel variant.
Turk J Pediatr;
65(1): 81-95, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36866988
16.
Phenotypic and Molecular Spectrum of a Turkish Cohort with Hereditary Multiple Osteochondromas.
Turk Arch Pediatr;
58(4): 376-381, 2023 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37317574
17.
Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia.
Am J Med Genet C Semin Med Genet;
160C(3): 230-7, 2012 Aug 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22791571
18.
Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia.
Am J Hum Genet;
85(6): 916-22, 2009 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20004766
19.
Evaluation of exonic copy numbers of SMN1 and SMN2 genes in SMA.
Gene;
823: 146322, 2022 May 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35219815
20.
Novel Gene Variants Associated with Primary Ciliary Dyskinesia.
Indian J Pediatr;
89(7): 682-691, 2022 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35239159