Detalhe da pesquisa
1.
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Am J Hum Genet
; 108(10): 1981-2005, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34582790
2.
Genetic aspects of ataxias in a cohort of Turkish patients.
Neurol Sci
; 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38587696
3.
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
Am J Hum Genet
; 105(1): 132-150, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31230720
4.
Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation.
Pol J Radiol
; 81: 86-9, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26985245
5.
46,XX, der(15),t(Y;15)(q12;p11) karyotype in an azoospermic male.
Indian J Hum Genet
; 18(2): 241-5, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23162305
6.
Genetic and Clinical Approach To Microcephaly: A 5-Year Single Center Experience.
J Pediatr Genet
; 11(2): 110-116, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35769956
7.
A female case of 5,10-methenyltetrahydrofolate synthetase deficiency with novel neuro-imaging abnormalities.
Brain Dev
; 44(9): 640-644, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35680490
8.
Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo's B) Case Using Whole Exome Sequencing.
J Pediatr Genet
; 10(1): 74-76, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33552644
9.
Dermoscopy of cutaneous neurofibromas associated with neurofibromatosis type 1.
J Am Acad Dermatol
; 73(3): 529-31, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26282805
10.
Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience.
Mol Syndromol
; 11(1): 4-14, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32256296
11.
Understanding What You Have Found: A Family With a Mutation in the LAMA1 Gene With Literature Review.
Clin Med Insights Case Rep
; 13: 1179547620948666, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32884387
12.
Analysis of musculoskeletal dysmorphic abnormalities of 20 fetuses.
Eklem Hastalik Cerrahisi
; 28(2): 114-20, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28760128
13.
A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus.
Int J Surg Case Rep
; 7C: 130-3, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25434475
14.
First case of neurofibromatosis type 1 associated with chorioretinal coloboma, optic disc pseudodoubling, and vitiligo: linked pathogenesis?
Clin Dysmorphol
; 25(1): 31-4, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26565699