Detalhe da pesquisa
1.
Allelic phenotype prediction of phenylketonuria based on the machine learning method.
Hum Genomics
; 17(1): 34, 2023 03 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37004080
2.
Study on the Compositional Analysis, Extraction Process, and Hemostatic and Anti-Inflammatory Activities of Cirsium japonicum Fisch. ex DC.-Cirsium setosum (Willd.) MB Extracts.
Molecules
; 29(9)2024 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38731410
3.
Compound heterozygous variants of THG1L result in autosomal recessive cerebellar ataxia.
J Hum Genet
; 68(12): 843-848, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37670026
4.
Identification of phenylketonuria patient genotypes using single-gene full-length sequencing.
Hum Genomics
; 16(1): 23, 2022 07 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35869558
5.
Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy.
Hum Genomics
; 14(1): 44, 2020 12 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33287870
6.
Identification of a novel splicing mutation in the SLC25A13 gene from a patient with NICCD: a case report.
BMC Pediatr
; 19(1): 348, 2019 10 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31607264
7.
Mechanism of action of Sambucus williamsii Hance var. miquelii in the treatment of osteoporosis analyzed by UHPLC-HRMS/MS combined network pharmacology and experimental validation.
Fitoterapia
; 176: 106003, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38729247
8.
Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population.
Clin Chim Acta
; 553: 117729, 2024 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38128819
9.
A Novel Frameshift Variant of the MITF Gene in a Chinese Family with Waardenburg Syndrome Type 2.
Mol Syndromol
; 12(4): 244-249, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34421503
10.
Variant analysis of PEX11B gene from a family with peroxisome biogenesis disorder 14B by whole exome sequencing.
Mol Genet Genomic Med
; 8(1)2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31724321
11.
Analysis of the accuracy of Z-scores of non-invasive prenatal testing for fetal Trisomies 13, 18, and 21 that employs the ion proton semiconductor sequencing platform.
Mol Cytogenet
; 11: 49, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30159034