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.
A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.
Am J Med Genet A
; 191(9): 2274-2289, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37387251
3.
High-intensity inspiratory muscle training in bronchiectasis: A randomized controlled trial.
Respirology
; 24(3): 246-253, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30209855
4.
Detection of 13 Novel Variants and Investigation of Mutation Distribution by Next Generation Sequencing in Hemoglobinopathies: A Single Center Experience.
Indian J Hematol Blood Transfus
; 40(2): 268-280, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38708170
5.
Utility of a targeted next-generation sequencing-based genetic screening panel in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome.
Arch Rheumatol
; 38(2): 299-306, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37680524
6.
Effects of Delayed-Onset Muscle Pain on Respiratory Muscle Function.
Sports Health
; : 19417381231214776, 2023 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38087850
7.
The Role of miR-26a, miR-29a and miR-448-3p in the Development of Cerebral Aneurysm.
Turk Neurosurg
; 33(3): 423-430, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36951025
8.
An unusual manifestation in a pediatric patient with MAFB mutation: Sacroiliitis in multicentric carpotarsal osteolysis syndrome.
Int J Rheum Dis
; 26(10): 2064-2068, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37088798
9.
Clinical presentation of children with Deficiency of Adenosine deaminase 2: A case series.
Eur J Med Genet
; 65(8): 104555, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35777620
10.
Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two Centers.
Medeni Med J
; 37(2): 180-193, 2022 Jun 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35735171
11.
Diagnostic value of plasma lysosphingolipids levels in a Niemann-Pick disease type C patient with transient neonatal cholestasis.
J Pediatr Endocrinol Metab
; 35(5): 681-685, 2022 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35107903
12.
Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability.
HGG Adv
; 3(4): 100132, 2022 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36035248
13.
Physical activity of patients with bronchiectasis compared with healthy counterparts: A cross-sectional study.
Heart Lung
; 49(1): 99-104, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31530430
14.
Validity and Reliability of the Turkish Version of the London Chest Activity of Daily Living Scale in Obstructive Lung Diseases.
Turk Thorac J
; 21(2): 116-121, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32203002
15.
Extrapulmonary features of bronchiectasis: muscle function, exercise capacity, fatigue, and health status.
Multidiscip Respir Med
; 7(1): 3, 2012 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-22958327
16.
PAI-1 4G/5G gene polymorphism is associated with angiographic patency in ST-elevation myocardial infarction patients treated with thrombolytic therapy.
Coron Artery Dis
; 23(6): 400-3, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22850480
17.
45,XY,der(13;14)(q10;q10) in an azoospermic man with hypogonadotrophic hypogonadism.
Asian J Androl
; 8(6): 751-3, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16752001
18.
Clonal monosomy 7 in a megakaryoblastic leukemia developed on the basis of Fanconi anemia.
J Pediatr Hematol Oncol
; 27(10): 565-6, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16217263