Detalhe da pesquisa
1.
Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia.
Am J Hum Genet
; 109(10): 1828-1849, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36084634
2.
Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.
Clin Genet
; 105(6): 596-610, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38278647
3.
Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.
Fetal Diagn Ther
; 51(3): 285-299, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38346409
4.
A new enrichment approach for candidate gene detection in unexplained recurrent pregnancy loss and implantation failure.
Mol Genet Genomics
; 298(1): 253-272, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36385415
5.
Revisiting TOP2B-related phenotypes: Three new cases and literature review.
Clin Genet
; 104(2): 251-258, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37068767
6.
Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey.
Am J Med Genet A
; 191(2): 498-509, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36398383
7.
Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families.
BMC Oral Health
; 23(1): 314, 2023 05 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37221585
8.
Functional characterization of a novel TP53RK mutation identified in a family with Galloway-Mowat syndrome.
Hum Mutat
; 43(12): 1866-1871, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36116039
9.
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.
Am J Hum Genet
; 105(4): 844-853, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31585108
10.
Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.
Clin Genet
; 102(3): 201-217, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35699517
11.
Functional loss of ubiquitin-specific protease 14 may lead to a novel distal arthrogryposis phenotype.
Clin Genet
; 101(4): 421-428, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35066879
12.
Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome.
Clin Genet
; 102(1): 66-71, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35352826
13.
Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis.
Prenat Diagn
; 42(12): 1503-1510, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35808914
14.
Cytogenetic and molecular characterization of a patient having infertility and mild intellectual disability with a very rare unstable ring chromosome 13.
Scott Med J
; 67(4): 173-177, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35862016
15.
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
16.
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.
Hum Genet
; 139(5): 575-592, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32193685
17.
Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
Brain
; 142(4): 867-884, 2019 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30879067
18.
Late diagnosis of a rare multisystemic genetic disorder: Transaldolase deficiency due to homozygous TALDO1 c.345dupA variant.
Nephrology (Carlton)
; 29(1): 55-56, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37740560
19.
Clinical Presentation and Molecular Characterization of 3 Patients with Vici Syndrome: Two Novel Variants in the EPG5 Gene.
Mol Syndromol
; 15(3): 257-268, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38841323
20.
FREM2-related Fraser syndrome with popliteal pterygium and structural central nervous system anomalies.
Eur J Med Genet
; 66(3): 104712, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36720431