Detalhe da pesquisa
1.
An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant.
Am J Med Genet A
; 191(6): 1530-1545, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36919607
2.
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.
Genet Med
; 24(10): 2187-2193, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35962790
3.
Specific early signs and long-term follow-up findings of progressive pseudorheumatoid dysplasia (PPRD) in the Turkish cohort.
Rheumatology (Oxford)
; 61(9): 3693-3703, 2022 08 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34919662
4.
Severe combined immunodeficiencies: Expanding the mutation spectrum in Turkey and identification of 12 novel variants.
Scand J Immunol
; 95(6): e13163, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35303369
5.
A Novel Homozygous TRNT1 Mutation in a Child With an Early Diagnosis of Common Variable Immunodeficiency Leading to Mild Hypogammaglobulinemia and Hemolytic Anemia.
J Pediatr Hematol Oncol
; 43(6): e780-e784, 2021 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33843817
6.
Combined immunodeficiency with marginal zone lymphoma due to a novel homozygous mutation in IL-21R gene and successful treatment with hematopoietic stem cell transplantation.
Pediatr Hematol Oncol
; 38(8): 745-752, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33966600
7.
20-year experience on prenatal diagnosis in a reference university medical genetics center in Turkey
Turk J Med Sci
; 51(4): 1775-1780, 2021 08 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33581708
8.
Clinical and molecular aspects of PTEN mutations in 10 pediatric patients.
Ann Hum Genet
; 84(4): 324-330, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32162695
9.
Fetal Gene Therapy Using a Single Injection of Recombinant AAV9 Rescued SMA Phenotype in Mice.
Mol Ther
; 27(12): 2123-2133, 2019 12 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31543414
10.
Melanocortin 4 receptor (MC4R) gene variants in children and adolescents having familial early-onset obesity: genetic and clinical characteristics.
Eur J Pediatr
; 179(9): 1445-1452, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32185475
11.
Chronic granulamatous disease: Two decades of experience from a paediatric immunology unit in a country with high rate of consangineous marriages.
Scand J Immunol
; 89(2): e12737, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30506560
12.
Evaluation of CNTNAP2 gene rs2107856 polymorphism in Turkish population with pseudoexfoliation syndrome.
Int Ophthalmol
; 39(1): 167-173, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29260496
13.
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.
Genet Med
; 25(5): 100799, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36853234
14.
HAX1 mutation positive children presenting with haemophagocytic lymphohistiocytosis.
Br J Haematol
; 177(4): 597-600, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28169428
15.
Human immune disorder associated with homozygous hypomorphic mutation affecting MALT1B splice variant.
J Allergy Clin Immunol
; 147(2): 775-778.e8, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32858082
16.
LOXL1 gene analysis in Turkish patients with exfoliation glaucoma.
Int Ophthalmol
; 36(5): 629-35, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26758070
17.
Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two Individuals
J Clin Res Pediatr Endocrinol
; 16(1): 76-83, 2024 03 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37847107
18.
Current genetic defects in common variable immunodeficiency patients on the geography between Europe and Asia: a single-center experience.
Immunol Res
; 72(2): 225-233, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37840117
19.
Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form.
J Pediatr Endocrinol Metab
; 37(1): 33-41, 2024 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37925743
20.
Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants.
Immunol Res
; 2024 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38644452