Detalhe da pesquisa
1.
Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia.
J Med Virol
; 95(2): e28457, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36597901
2.
A Paternal "Balanced" Chromosome 2 and 4 Translocation with Chromosome 21q Insertion Leading to Duplication of 2q22.1q24.1 in Two Siblings.
Cytogenet Genome Res
; 162(6): 297-305, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36863332
3.
Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS).
Am J Med Genet A
; 188(6): 1792-1800, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35238469
4.
MASP1-related 3MC syndrome in a patient from Turkey.
Am J Med Genet A
; 185(7): 2267-2270, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33765348
5.
Extending Phenotypic Spectrum of 17q22 Microdeletion: Growth Hormone Deficiency.
Fetal Pediatr Pathol
; 40(5): 486-492, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31997693
6.
Mosaic Small Supernumerary Marker Chromosome Derived from Five Discontinuous Regions of Chromosome 8 in a Patient with Neutropenia and Oral Aphthous Ulcer.
Cytogenet Genome Res
; 160(1): 11-17, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31982875
7.
A Novel ATRX Mutation Presenting with Intellectual Disability and Severe Kyphoscoliosis.
Fetal Pediatr Pathol
; 39(6): 539-543, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31608750
8.
Cytogenetic, Molecular, and Phenotypic Characterization of a Patient with de novo Derivative Chromosome 18 and Review of the Literature.
Cytogenet Genome Res
; 159(2): 74-80, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31658462
9.
Constitutional Trisomy 8 Mosaicism with Persistent Macrocytosis.
Cytogenet Genome Res
; 150(1): 35-39, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27838684
10.
Severe skin fragility with postnatal lethal outcome due to a biallelic KRT5 mutation.
J Dtsch Dermatol Ges
; 19(3): 440-442, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32989862
11.
Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.
Breast
; 65: 15-22, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35753294
12.
Application of Chromosome Microarray Analysis in the Investigation of Developmental Disabilities and Congenital Anomalies: Single Center Experience and Review of NRXN3 and NEDD4L Deletions.
Mol Syndromol
; 11(4): 197-206, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33224013
13.
Extending the Phenotypic Spectrum of Huntington Disease: Hypothermia.
Mol Syndromol
; 11(1): 56-58, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32256303
14.
Importance of patient selection criteria in determining diagnostic copy number variations in patients with multiple congenital anomaly/mental retardation.
Mol Cytogenet
; 12: 23, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31149029
15.
Prognostic impact of RUNX1 and ETV6 gene copy number on pediatric B-cell precursor acute lymphoblastic leukemia with or without hyperdiploidy.
Int J Hematol
; 104(3): 368-77, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27393278
16.
A novel TWIST1 gene mutation in a patient with Saethre-Chotzen syndrome.
Clin Dysmorphol
; 26(3): 175-178, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27870659