Detalhe da pesquisa
1.
Refractory and Fatal Presentation of Severe Autoimmune Hemolytic Anemia in a Child With the DNASE1L3 Mutation Complicated With an Additional DOCK8 Variant.
J Pediatr Hematol Oncol
; 43(3): e452-e456, 2021 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32205782
2.
The molecular basis and genotype-phenotype correlations of congenital adrenal hyperplasia (CAH) in Anatolian population.
Mol Biol Rep
; 46(4): 3677-3690, 2019 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-31006099
3.
A novel missense mutation outside the DNAJ domain of DNAJC21 is associated with Shwachman-Diamond syndrome.
Br J Haematol
; 197(6): e88-e93, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35298850
4.
Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.
Breast
; 65: 15-22, 2022 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-35753294