Detalhe da pesquisa
1.
Clinical characteristics and related gene mutations of infants with short-chain acyl-CoA dehydrogenase deficiency by neonatal screening in Beijing.
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 51(3): 278-283, 2022 Jun 25.
Artigo
Inglês
| MEDLINE | ID: mdl-36207829
2.
Repeatability and Reliability of Home-Based Stool Color Card Screening for Biliary Atresia Based on Results in China and Japan.
Tohoku J Exp Med
; 252(4): 365-372, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33342972
3.
Identification of gene mutations in six Chinese patients with maple syrup urine disease.
Front Genet
; 14: 1132364, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-36911408
4.
Clinical characteristics and genetics analysis for the ITD of congenital hypothyroidism.
J Pediatr Endocrinol Metab
; 35(6): 741-748, 2022 Jun 27.
Artigo
Inglês
| MEDLINE | ID: mdl-35438852
5.
Identification and molecular analysis of 11 cases of the PTS gene variants associated with tetrahydrobiopterin deficiency.
Front Genet
; 13: 919209, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36212127
6.
Generation of Marker-Free Transgenic Rice Resistant to Rice Blast Disease Using Ac/Ds Transposon-Mediated Transgene Reintegration System.
Front Plant Sci
; 12: 644437, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33959140
7.
Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing.
J Pediatr Endocrinol Metab
; 33(5): 639-645, 2020 May 26.
Artigo
Inglês
| MEDLINE | ID: mdl-32304307
8.
A pilot study on newborn screening for congenital adrenal hyperplasia in Beijing.
J Pediatr Endocrinol Metab
; 32(3): 253-258, 2019 Mar 26.
Artigo
Inglês
| MEDLINE | ID: mdl-30817302
9.
Whole-exome sequencing as a powerful tool for identifying genetic causes in a patient with POLG-related disorders and phenylketonuria.
J Int Med Res
; 47(3): 1387-1394, 2019 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-30678510
10.
Transcriptome Analysis Highlights Defense and Signaling Pathways Mediated by Rice pi21 Gene with Partial Resistance to Magnaporthe oryzae.
Front Plant Sci
; 7: 1834, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-28008334
11.
Modified stool color card with digital images was efficient and feasible for early detection of biliary atresia-a pilot study in Beijing, China.
World J Pediatr
; 12(4): 415-420, 2016 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-27807737