Detalhe da pesquisa
1.
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.
Cell
; 157(3): 636-50, 2014 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-24766809
2.
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
Am J Hum Genet
; 105(5): 1005-1015, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31630790
3.
Heterozygous Pyrin (MEFV) E148Q allele carriers indicate a reduced glaucoma risk for Turkish population: a prospective clinical analysis.
Ophthalmic Genet
; : 1-5, 2024 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38482581
4.
Ear atresia: Is there a role of apoptosis-regulating miRNAs?
North Clin Istanb
; 5(3): 238-245, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30688935
5.
Cilioretinal artery: Vasculogenesis might be promoted by plasminogen activator inhibitor-1 5G allele.
Ophthalmic Genet
; 38(5): 428-433, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28145780
6.
Laparoscopic cholecystectomy in an adult with agenesis of right hemidiaphragm and limb reduction defects: First report in literature.
North Clin Istanb
; 3(2): 146-149, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28058404
7.
Lentiginoses in polycythemia vera patient: Is there a role for JAK2 (V617F) mutation?
JAKSTAT
; 4(1): e1071000, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26413426
8.
Relation of stem cell markers ALDH1 and CD44 with clinicopathological factors in urothelial carcinomas of urinary bladder.
Int J Clin Exp Med
; 8(3): 4195-203, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26064330
9.
Novel PTCH1 Gene Mutation in a Patient with Gorlin-Goltz Syndrome.
Ann Dermatol
; 31(Suppl): S10-S11, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33911679