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"Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene".
Oshi MAM, Alfaifi J, Alqahtani YAM, Aljabri MF, Kamal NM, Althopaity J, Althobaiti KA, Almalki AM, Abosabie SAS, Abosabie SA, Sherbiny HS, Almanjoomi SK, Abdallah EAA. Oshi MAM, et al. Among authors: abdallah eaa. Mol Genet Genomic Med. 2024 Jan;12(1):e2282. doi: 10.1002/mgg3.2282. Epub 2023 Oct 6. Mol Genet Genomic Med. 2024. PMID: 37800653 Free PMC article.
Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family.
Abosabie SAS, Abosabie SA, Alfaifi J, Alqahtani YA, Shati AA, Alotaibi NA, Alghamdi OA, Alotaibi GN, Baabdullah AA, Kabrah LK, Kamal NM, Oshi MAM, Abdallah EAA. Abosabie SAS, et al. Among authors: abdallah eaa. Mol Genet Genomic Med. 2024 Jan;12(1):e2314. doi: 10.1002/mgg3.2314. Epub 2023 Nov 8. Mol Genet Genomic Med. 2024. PMID: 37937857 Free PMC article. Review.
18 results