Gan J - Search Results

1

[Analysis of a case with Xia-Gibbs syndrome due to variant of AHDC1 gene].

Fan L, Li Y, Luo H, Shen Y, Yuan M, Yang Z, Gan J. Fan L, et al. Among authors: gan j. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Apr 10;39(4):397-400. doi: 10.3760/cma.j.cn511374-20210807-00656. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 35446974 Chinese.

2

Case Report: De novo Variants of KMT2E Cause O'Donnell-Luria-Rodan Syndrome: Additional Cases and Literature Review.

Li Y, Fan L, Luo R, Yang Z, Yuan M, Zhang J, Gan J. Li Y, et al. Among authors: gan j. Front Pediatr. 2021 Feb 18;9:641841. doi: 10.3389/fped.2021.641841. eCollection 2021. Front Pediatr. 2021. PMID: 33681112 Free PMC article.

3

Arterial spin labeling for presurgical localization of refractory frontal lobe epilepsy in children.

Zhang J, Zhang H, Li Y, Yuan M, Zhang J, Luo H, Yao Z, Gan J. Zhang J, et al. Among authors: gan j. Eur J Med Res. 2021 Aug 6;26(1):88. doi: 10.1186/s40001-021-00564-0. Eur J Med Res. 2021. PMID: 34362444 Free PMC article.

4

A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review.

Zhang J, Shen Y, Yang Z, Yang F, Li Y, Yu B, Chen W, Gan J. Zhang J, et al. Among authors: gan j. J Hum Genet. 2022 Feb;67(2):79-85. doi: 10.1038/s10038-021-00969-z. Epub 2021 Aug 11. J Hum Genet. 2022. PMID: 34376795 Free PMC article. Review.

5

[Analysis of DNM1L gene variant in a case of fatal encephalopathy caused by mitochondrial peroxidase division deficiency].

Chen X, Li Y, Luo H, Gan J. Chen X, et al. Among authors: gan j. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Sep 10;38(9):887-890. doi: 10.3760/cma.j.cn511374-20210204-00110. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 34487538 Chinese.

6

[Clinical and genetic analysis of PACS2 gene variant in two child patients with developmental and epileptic encephalopathy 66].

Shen Y, Li Y, Zhang J, Yuan M, Zhang J, Luo R, Gan J. Shen Y, et al. Among authors: gan j. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Oct 10;38(10):969-972. doi: 10.3760/cma.j.cn511374-20210301-00172. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 34625934 Chinese.

7

De novo variant of SETD1A causes neurodevelopmental disorder with dysmorphic facies: A case report.

Zhang J, Tao Q, Yang Z, Li Y, Gan J. Zhang J, et al. Among authors: gan j. Psychiatry Clin Neurosci. 2022 Feb;76(2):58-59. doi: 10.1111/pcn.13310. Epub 2021 Dec 3. Psychiatry Clin Neurosci. 2022. PMID: 34716975 Free PMC article. No abstract available.

8

[Analysis of clinical features and ZBTB18 gene variant in a child with autosomal dominant mental disorder type 22].

Zhang J, Li Y, Luo H, Shen Y, Yuan M, Yang Z, Gan J. Zhang J, et al. Among authors: gan j. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Mar 10;39(3):293-296. doi: 10.3760/cma.j.cn511374-20210630-00556. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 35315038 Chinese.

9

[De novo variant of CSNK2B causes Poirier-Bienvenu neurodevelopmental syndrome: two case report].

Zhang J, Li Y, Luo H, Shen Y, Yuan M, Yang Z, Gan J. Zhang J, et al. Among authors: gan j. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 May 10;39(5):484-487. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 35598262 Chinese.

10

Rare variant of TBL1XR1 in West syndrome: A case report.

Shen Y, Yuan M, Luo H, Yang Z, Liang M, Gan J. Shen Y, et al. Among authors: gan j. Mol Genet Genomic Med. 2022 Jul;10(7):e1991. doi: 10.1002/mgg3.1991. Epub 2022 May 25. Mol Genet Genomic Med. 2022. PMID: 35611576 Free PMC article. Review.

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