PubMed for id: 868200

Year	Number of Results
1979	1
1992	2
2001	1
2003	1
2004	1
2005	2
2007	3
2008	1
2010	1
2011	1
2012	1
2013	1
2014	1
2015	1
2016	1
2017	2
2018	3
2019	1
2020	1
2021	2
2022	1
2023	4
2024	0

1

A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor.

Uneoka S, Kobayashi T, Numata-Uematsu Y, Oikawa Y, Katata Y, Okubo Y, Abe Y, Kikuchi A, Takayama J, Tamiya G, Kure S, Saito K, Uematsu M. Uneoka S, et al. Pediatr Neurol. 2023 Sep;146:16-20. doi: 10.1016/j.pediatrneurol.2023.06.002. Epub 2023 Jun 12. Pediatr Neurol. 2023. PMID: 37392669

2

A case of West syndrome and global developmental delay in a child with a heterozygous mutation in the TBL1XR1 gene: A case report.

Wu XH, Lin SZ, Liu ZX, Qi YF, Wang WQ, Li JY, Chen QD, Yang LL. Wu XH, et al. Medicine (Baltimore). 2023 May 12;102(19):e33744. doi: 10.1097/MD.0000000000033744. Medicine (Baltimore). 2023. PMID: 37171308 Free PMC article.

3

[Clinical and genetic characteristics of children with dopa-responsive dystonia caused by tyrosine hydroxylase gene variations].

Zhang GY, Cai ZJ, Zhang XL, Yang L, Li YZ, Wei LK, Zhang YP, Chang PP, Zhu DN. Zhang GY, et al. Zhonghua Er Ke Za Zhi. 2023 Apr 2;61(4):339-344. doi: 10.3760/cma.j.cn112140-20221118-00987. Zhonghua Er Ke Za Zhi. 2023. PMID: 37011980 Chinese.

4

Evidence for effect of l-serine, a novel therapy for GRIN2B-related neurodevelopmental disorder.

den Hollander B, Veenvliet ARJ, Rothuizen-Lindenschot M, van Essen P, Peters G, Santos-Gómez A, Olivella M, Altafaj X, Brands MM, Jacobs BAW, van Karnebeek CD. den Hollander B, et al. Mol Genet Metab. 2023 Mar;138(3):107523. doi: 10.1016/j.ymgme.2023.107523. Epub 2023 Jan 21. Mol Genet Metab. 2023. PMID: 36758276 Free article.

5

Three Novel ARID1B Variations in Coffin-Siris Syndrome Patients.

Tan Y, Chen J, Li Y, Liu Y, Wang Y, Xia S, Chen L, Wei W, Chen Z. Tan Y, et al. Neurol India. 2022 Sep-Oct;70(5):2174-2179. doi: 10.4103/0028-3886.359283. Neurol India. 2022. PMID: 36352633 Free article.

6

Protein-Activated Kinase 3 (PAK3)-Related Intellectual Disability Associated with Combined Immunodeficiency: A Case Report.

Almutairi O, Almutairi HA, Al Rushood M. Almutairi O, et al. Am J Case Rep. 2021 May 20;22:e930966. doi: 10.12659/AJCR.930966. Am J Case Rep. 2021. PMID: 34014906 Free PMC article.

7

Early diagnosis of MECP2 duplication syndrome: Insights from a nationwide survey in Japan.

Takeguchi R, Takahashi S, Akaba Y, Tanaka R, Nabatame S, Kurosawa K, Matsuishi T, Itoh M. Takeguchi R, et al. J Neurol Sci. 2021 Mar 15;422:117321. doi: 10.1016/j.jns.2021.117321. Epub 2021 Jan 19. J Neurol Sci. 2021. PMID: 33516938

8

[Autosomal dominant intellectual disability-40 caused by a de novo mutation of the CHAMP1 gene: a case report].

Wang MM, Zhu DN, Li SS, Zhang GY, Yang L, Zhao YX, Liu HY. Wang MM, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2020 Oct;22(10):1131-1134. doi: 10.7499/j.issn.1008-8830.2004163. Zhongguo Dang Dai Er Ke Za Zhi. 2020. PMID: 33059813 Free PMC article. Chinese.

9

Three rare disease diagnoses in one patient through exome sequencing.

Ferrer A, Schultz-Rogers L, Kaiwar C, Kemppainen JL, Klee EW, Gavrilova RH. Ferrer A, et al. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004390. doi: 10.1101/mcs.a004390. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31427378 Free PMC article.

10

Mabry Syndrome in a Child of South Asian Descent.

Sohail AH, Durrani MYK, Ibrahim SH, Humayun KN. Sohail AH, et al. J Coll Physicians Surg Pak. 2018 Sep;28(9):S192-S194. doi: 10.29271/jcpsp.2018.09.S192. J Coll Physicians Surg Pak. 2018. PMID: 30173695

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