Associated Papers
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1
Whole genome mapping and identification of single nucleotide polymorphisms of four Bangladeshi individuals and their functional significance.
Khan S et al.
Bmc Research Notes, 2021
33743798 (PubMed )
Supplement: 13104_2021_5514_MOESM4_ESM.zip › Supplementary_File_1A-1.xlsx › Supplementary_File_1A-1.exonic_
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Skowron MA et al.
Scientific Reports, 2019
31597922 (PubMed )
Supplement: 41598_2019_50891_MOESM12_ESM.xlsx › Unique_in_253J-LTT
Antiepileptic drug-induced psychosis associated with MTHFR C677T: a case report.
Shimura M et al.
Journal of Medical Case Reports, 2019
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
30497413 (PubMed )
Supplement: 12883_2018_1199_MOESM5_ESM.xlsx › Supplementary_Table_5_The_index
More severe toxicity of genetic polymorphisms on MTHFR activity in osteosarcoma patients treated with high-dose methotrexate.
Xie L et al.
Oncotarget, 2018
Ovarian hyperstimulation syndrome after gonadotropin-releasing hormone agonist triggering and "freeze-all": in-depth analysis of genetic predisposition.
Santos-Ribeiro S et al.
Journal of Assisted Reproduction and Genetics, 2015
Single-nucleotide polymorphisms in genes relating to homocysteine metabolism: how applicable are public SNP databases to a typical European population?
Janosíková B et al.
European Journal of Human Genetics : Ejhg, 2005
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