Detalhe da pesquisa
1.
ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants.
Hum Genomics
; 15(1): 45, 2021 07 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34281620
2.
Co-delivery of curcumin and Bcl-2 siRNA to enhance therapeutic effect against breast cancer cells using PEI-functionalized PLGA nanoparticles.
Pharm Dev Technol
; 27(7): 785-793, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36043390
3.
Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum.
Hum Mutat
; 42(5): 491-497, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33565221
4.
Identification of novel loss of function variants in MBOAT7 resulting in intellectual disability.
Genomics
; 112(6): 4072-4077, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32645526
5.
Homozygous in-frame variant of SCL6A3 causes dopamine transporter deficiency syndrome in a consanguineous family.
Ann Hum Genet
; 84(4): 315-323, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32077500
6.
A novel variant of ST3GAL3 causes non-syndromic autosomal recessive intellectual disability in Iranian patients.
J Gene Med
; 22(11): e3253, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32666583
7.
Defective complex III mitochondrial respiratory chain due to a novel variant in CYC1 gene masquerades acute demyelinating syndrome or Leber hereditary optic neuropathy.
Mitochondrion
; 60: 12-20, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34252606