Detalhe da pesquisa
1.
NDE1-related disorders: A recurrent NDE1 pathogenic variant causing Lissencephaly 4 can also be associated with microhydranencephaly.
Am J Med Genet A
; 188(1): 326-331, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34562061
2.
An Anomaly with Potential as a New Prognostic Marker in CLL with del(13q): Gain of 16p13.3.
Cytogenet Genome Res
; 161(10-11): 479-487, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34915466
3.
Further Evidence for RFWD3 Gene Causing Fanconi Anemia Complementation Group W: Detailed Clinical Report of the Second Case in the Literature.
Mol Syndromol
; 14(6): 509-515, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38058754
4.
Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes and RFX6 in Children with Autoantibody-negative Type 1 Diabetes Mellitus.
J Clin Res Pediatr Endocrinol
; 2023 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054414
5.
Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Turkey.
J Pediatr Endocrinol Metab
; 35(5): 639-647, 2022 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35355500
6.
Assessment of clinical characteristics of cardiac amyloidosis as a potential underlying etiology in patients diagnosed with heart failure with preserved ejection fraction.
Kardiol Pol
; 80(6): 672-678, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35390167
7.
Wiedemann-Steiner Syndrome: A Rare Differential Diagnosis of Neurodevelopmental Delay and Dysmorphic Features.
J Pediatr Genet
; 11(2): 162-164, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35769955
8.
A case of familial recurrent 17q12 microdeletion syndrome presenting with severe diabetic ketoacidosis.
Turk J Pediatr
; 64(3): 558-565, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35899569
9.
A pediatric BAL case with double Ph chromosomes and trisomy 5.
Cancer Genet
; 258-259: 7-9, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34225100
10.
Frequency of frontotemporal dementia-related gene variants in Turkey.
Neurobiol Aging
; 106: 332.e1-332.e11, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34162492
11.
Which prognostic marker is responsible for the clinical heterogeneity in CLL with 13q deletion?
Mol Cytogenet
; 14(1): 2, 2021 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33407772
12.
Late Diagnosis of Congenital Chloride Diarrhea Mimicking Hirschsprung's Disease.
Clin Pediatr (Phila)
; : 99228241228116, 2024 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38303675
13.
The association between repeat number in C9orf72 and phenotypic variability in Turkish patients with frontotemporal lobar degeneration.
Neurobiol Aging
; 76: 216.e1-216.e7, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30685122