Detalhe da pesquisa
1.
Neurologic Status of Patients with Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation.
J Clin Immunol
; 43(8): 2062-2075, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37726596
2.
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.
Hum Genet
; 136(7): 821-834, 2017 07.
Artigo
Inglês
| MEDLINE | ID: mdl-28393272
3.
A Patient with Novel ICOS Mutation Presented with Progressive Loss of B Cells.
J Clin Immunol
; 41(1): 251-255, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33040278
4.
Clinical evaluation of torpedo maculopathy in an infant population with additional genetic testing for NEXMIF mutation.
Eye (Lond)
; 36(8): 1639-1644, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34326501
5.
Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases.
Clin Rheumatol
; 40(6): 2327-2337, 2021 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-33165748
6.
Does sampling saliva increase detection of SARS-CoV-2 by RT-PCR? Comparing saliva with oro-nasopharyngeal swabs.
J Virol Methods
; 290: 114049, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33387561
7.
The musculoskeletal system manifestations in children with familial Mediterranean fever.
North Clin Istanb
; 7(5): 438-442, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-33163878
8.
Genetic panel screening in patients with clinically unclassified systemic autoinflammatory diseases.
Clin Rheumatol
; 39(12): 3733-3745, 2020 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-32458238
9.
The origin of SARS-CoV-2 in Istanbul: Sequencing findings from the epicenter of the pandemic in Turkey.
North Clin Istanb
; 7(3): 203-209, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32478289
10.
Responding to COVID-19 in Istanbul: Perspective from genomic laboratory.
North Clin Istanb
; 7(3): 311-312, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32478308