Yang F - Search Results

1

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N, Chen L, Zhang Y, Wu X, Hao Y, Yang F, Yang Z, Liang J. Yang N, et al. Among authors: yang f, yang z. BMC Pediatr. 2024 Feb 3;24(1):96. doi: 10.1186/s12887-024-04553-0. BMC Pediatr. 2024. PMID: 38310242 Free PMC article. Review.

2

Novel GRIA2 variant in a patient with atypical autism spectrum disorder and psychiatric symptoms: a case report.

Cai Q, Zhou Z, Luo R, Yu T, Li D, Yang F, Yang Z. Cai Q, et al. Among authors: yang f, yang z. BMC Pediatr. 2022 Nov 3;22(1):629. doi: 10.1186/s12887-022-03702-7. BMC Pediatr. 2022. PMID: 36329391 Free PMC article.

3

A novel variant in BCL11B in an individual with neurodevelopmental delay: A case report.

Yu Y, Jia X, Yin H, Jiang H, Du Y, Yang F, Yang Z, Li H. Yu Y, et al. Among authors: yang f, yang z. Mol Genet Genomic Med. 2023 Apr;11(4):e2132. doi: 10.1002/mgg3.2132. Epub 2023 Jan 23. Mol Genet Genomic Med. 2023. PMID: 36683525 Free PMC article.

4

Novel KCNC2 variant associated with developmental and epileptic encephalopathy.

Huo L, Wu Q, Yang F, Liu X, Yang Z, Wang H. Huo L, et al. Among authors: yang f, yang z. Int J Dev Neurosci. 2023 Jun;83(4):357-367. doi: 10.1002/jdn.10263. Epub 2023 May 18. Int J Dev Neurosci. 2023. PMID: 37203270

5

A case report on deficiency of adenosine deaminase 2 with relapse-remission course and analysis of genotype-phenotype correlation.

Cai Q, Feng F, Tian Y, Luo R, Mu D, Yang F, Yang Z, Zhou Z. Cai Q, et al. Among authors: yang f, yang z. Am J Med Genet A. 2024 Jun;194(6):e63568. doi: 10.1002/ajmg.a.63568. Epub 2024 Feb 14. Am J Med Genet A. 2024. PMID: 38353426

6

A Heterozygous Variant of FGF13 Caused X-Linked Developmental and Epileptic Encephalopathy 90 in a Chinese Family.

Cheng H, Miao P, Wang Y, Guo Y, Gao L, Lou Y, Yang F, Liang M, Feng J. Cheng H, et al. Among authors: yang f. Cytogenet Genome Res. 2023;163(1-2):36-41. doi: 10.1159/000531932. Epub 2023 Aug 3. Cytogenet Genome Res. 2023. PMID: 37536293

7

Novel SNX13 Frameshift Variant in an Individual with Developmental Delay.

Tao X, Che Y, Li C, Ruan W, Xu J, Yu Y, Yang F, Wang J, Li H. Tao X, et al. Among authors: yang f. Cytogenet Genome Res. 2021;161(10-11):514-519. doi: 10.1159/000520296. Epub 2021 Dec 8. Cytogenet Genome Res. 2021. PMID: 34879376 Free article.

8

Exon skipping caused by a complex structural variation in SH2D1A resulted in X-linked lymphoproliferative syndrome type 1.

Wu L, Yang F, Wang J, Yang F, Liang M, Yang H. Wu L, et al. Among authors: yang f, yang h. Mol Genet Genomic Med. 2022 Mar;10(3):e1873. doi: 10.1002/mgg3.1873. Epub 2022 Jan 29. Mol Genet Genomic Med. 2022. PMID: 35092357 Free PMC article.

9

ADGRL1 variants: From developmental and epileptic encephalopathy to genetic epilepsy with febrile seizures plus.

Lei W, Xiong Y, Shi Y, Song L, Xiang J, Yang F, Wu X, Wang H, Tian M. Lei W, et al. Among authors: yang f. Dev Med Child Neurol. 2025 Jan;67(1):119-125. doi: 10.1111/dmcn.16005. Epub 2024 Jun 26. Dev Med Child Neurol. 2025. PMID: 38927006

10

Autosomal recessive intellectual disability caused by compound heterozygous variants of the EEF1D gene in a Chinese family.

Zhang J, Liu H, Wang M, Xu Y, Zhu D, Yang F. Zhang J, et al. Among authors: yang f. Mol Genet Genomic Med. 2024 Jan;12(1):e2333. doi: 10.1002/mgg3.2333. Epub 2023 Dec 11. Mol Genet Genomic Med. 2024. PMID: 38083972 Free PMC article.

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