Zhao JQ - Search Results

1

A pilot study on newborn screening for congenital adrenal hyperplasia in Beijing.

Gong LF, Gao X, Yang N, Zhao JQ, Yang HH, Kong YY. Gong LF, et al. Among authors: zhao jq. J Pediatr Endocrinol Metab. 2019 Mar 26;32(3):253-258. doi: 10.1515/jpem-2018-0342. J Pediatr Endocrinol Metab. 2019. PMID: 30817302

2

[Epidemiologic characteristics and risk factors for congenital hypothyroidism from 1989 to 2014 in Beijing].

Yang HH, Qiu L, Zhao JQ, Yang N, Gong LF, Kong YY. Yang HH, et al. Among authors: zhao jq. Zhonghua Yu Fang Yi Xue Za Zhi. 2016 Aug 6;50(8):728-32. doi: 10.3760/cma.j.issn.0253-9624.2016.08.011. Zhonghua Yu Fang Yi Xue Za Zhi. 2016. PMID: 27539527 Chinese.

3

Modified stool color card with digital images was efficient and feasible for early detection of biliary atresia-a pilot study in Beijing, China.

Kong YY, Zhao JQ, Wang J, Qiu L, Yang HH, Diao M, Li L, Gu YH, Matsui A. Kong YY, et al. Among authors: zhao jq. World J Pediatr. 2016 Nov;12(4):415-420. doi: 10.1007/s12519-016-0061-7. Epub 2016 Nov 3. World J Pediatr. 2016. PMID: 27807737

4

Whole-exome sequencing as a powerful tool for identifying genetic causes in a patient with POLG-related disorders and phenylketonuria.

Li L, Zhao JQ, Wang C, Yang N, Gong LF, Yang HH, Yin C, Kong YY. Li L, et al. Among authors: zhao jq. J Int Med Res. 2019 Mar;47(3):1387-1394. doi: 10.1177/0300060518823096. Epub 2019 Jan 24. J Int Med Res. 2019. PMID: 30678510 Free PMC article.

5

Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing.

Yang N, Gong LF, Zhao JQ, Yang HH, Ma ZJ, Liu W, Wan ZH, Kong YY. Yang N, et al. Among authors: zhao jq. J Pediatr Endocrinol Metab. 2020 May 26;33(5):639-645. doi: 10.1515/jpem-2019-0420. J Pediatr Endocrinol Metab. 2020. PMID: 32304307

6

Repeatability and Reliability of Home-Based Stool Color Card Screening for Biliary Atresia Based on Results in China and Japan.

Gu YH, Zhao JQ, Kong YY, Yang HH, Diao M, Li L, Nomachi S, Tezuka M, Hanai J, Matsui A. Gu YH, et al. Among authors: zhao jq. Tohoku J Exp Med. 2020 Dec;252(4):365-372. doi: 10.1620/tjem.252.365. Tohoku J Exp Med. 2020. PMID: 33342972 Free article.

7

Clinical characteristics and genetics analysis for the ITD of congenital hypothyroidism.

Gong L, Yang N, Zhao J, Tang Y, Li L, Yang H, Kong Y. Gong L, et al. J Pediatr Endocrinol Metab. 2022 Apr 20;35(6):741-748. doi: 10.1515/jpem-2022-0052. Print 2022 Jun 27. J Pediatr Endocrinol Metab. 2022. PMID: 35438852

8

Clinical characteristics and related gene mutations of infants with short-chain acyl-CoA dehydrogenase deficiency by neonatal screening in Beijing.

Gong L, Yang N, Zhao J, Yang H, Tang Y, Li L, Kong Y. Gong L, et al. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2022 Jun 25;51(3):278-283. doi: 10.3724/zdxbyxb-2022-0214. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2022. PMID: 36207829 Free PMC article. English.

9

Identification and molecular analysis of 11 cases of the PTS gene variants associated with tetrahydrobiopterin deficiency.

Li L, Yang H, Zhao J, Yang N, Gong L, Tang Y, Kong Y. Li L, et al. Front Genet. 2022 Sep 12;13:919209. doi: 10.3389/fgene.2022.919209. eCollection 2022. Front Genet. 2022. PMID: 36212127 Free PMC article.

10

Identification of gene mutations in six Chinese patients with maple syrup urine disease.

Li L, Mao X, Yang N, Ji T, Wang S, Ma Y, Yang H, Sang Y, Zhao J, Gong L, Tang Y, Kong Y. Li L, et al. Front Genet. 2023 Feb 24;14:1132364. doi: 10.3389/fgene.2023.1132364. eCollection 2023. Front Genet. 2023. PMID: 36911408 Free PMC article.

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