Detalhe da pesquisa
1.
Metabolic and other morbid complications in congenital generalized lipodystrophy type 4.
Am J Med Genet A
; 194(6): e63533, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38234231
2.
A novel homozygous missense variant in TBC1D31 in a consanguineous family with congenital anomalies of the kidney and urinary tract (CAKUT).
Clin Genet
; 104(6): 679-685, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37468454
3.
The same mutation in a family with adenosine deaminase 2 deficiency.
Rheumatol Int
; 41(1): 227-233, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31541281
4.
Coexistence of Trisomy 13 and SRY (-) XX Ovotesticular Disorder of Sex Development.
Fetal Pediatr Pathol
; 36(6): 445-451, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29220612
5.
Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
medRxiv
; 2023 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36993625
6.
Concurrent Pathogenic Variants of BRCA1, MUTYH and CHEK2 in a Hereditary Cancer Family.
Cancer Genet
; 268-269: 128-136, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36368126
7.
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
em Inglês
| MEDLINE | ID: mdl-33165748
8.
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
em Inglês
| MEDLINE | ID: mdl-33387561
9.
Peters Plus syndrome: a recognizable clinical entity.
Turk J Pediatr
; 62(1): 136-140, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32253880
10.
The musculoskeletal system manifestations in children with familial Mediterranean fever.
North Clin Istanb
; 7(5): 438-442, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33163878
11.
Genetic panel screening in patients with clinically unclassified systemic autoinflammatory diseases.
Clin Rheumatol
; 39(12): 3733-3745, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32458238
12.
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
em Inglês
| MEDLINE | ID: mdl-32478289
13.
A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome.
Korean J Fam Med
; 38(2): 102-105, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28360987
14.
HERC1 mutations in idiopathic intellectual disability.
Eur J Med Genet
; 60(5): 279-283, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28323226
15.
Responding to COVID-19 in Istanbul: Perspective from genomic laboratory.
North Clin Istanb
; 7(3): 311-312, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32478308