Detalhe da pesquisa
1.
MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males.
BMC Med
; 21(1): 155, 2023 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37081442
2.
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(3): 107624, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348148
3.
The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China.
J Hum Genet
; 65(9): 759-769, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32409695
4.
MECP2 mutation spectrum and its clinical characteristics in a Chinese cohort.
Clin Genet
; 98(3): 240-250, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32472557
5.
Correction: Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort.
Genet Med
; 21(9): 2162, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30783265
6.
Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort.
Genet Med
; 21(6): 1330-1338, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30405208
7.
[Paroxysmal crying and motor regression for more than two months in an infant].
Zhongguo Dang Dai Er Ke Za Zhi
; 21(4): 399-404, 2019 Apr.
Artigo
em Zh
| MEDLINE | ID: mdl-31014436
8.
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(4): 107647, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37453860
9.
Novel MEF2C point mutations in Chinese patients with Rett (-like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation.
BMC Med Genet
; 19(1): 191, 2018 10 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30376817
10.
New pregnane glycosides from Brucea javanica and their antifeedant activity.
Chem Biodivers
; 8(3): 460-6, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21404429
11.
Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review.
Front Genet
; 12: 683255, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34276785
12.
Clinical and Genetic Heterogeneity in a Cohort of Chinese Children With Dopa-Responsive Dystonia.
Front Pediatr
; 8: 83, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32185155
13.
CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes.
Front Pediatr
; 8: 577544, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33425808
14.
Rett syndrome-causing mutations compromise MeCP2-mediated liquid-liquid phase separation of chromatin.
Cell Res
; 30(5): 393-407, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32111972
15.
Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome.
Seizure
; 66: 26-30, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30776697
16.
DYT28 Responsive to Pallidal Deep Brain Stimulation.
Mov Disord Clin Pract
; 7(1): 97-99, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31970221
17.
Studies on chemical fingerprints of Siraitia grosvenorii fruits (Luo Han Guo) by HPLC.
J Nat Med
; 66(1): 70-6, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21717090
18.
A cytotoxic cardenolide and a saponin from the rhizomes of Tupistra chinensis.
Fitoterapia
; 83(8): 1489-93, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22947328
19.
Cucurbitane glycosides from unripe fruits of Siraitia grosvenori.
Chem Pharm Bull (Tokyo)
; 55(7): 1082-6, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17603208