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The utility of whole-exome sequencing in accurate diagnosis of neuromuscular disorders in consanguineous families in Jordan.
Clin Chim Acta. 2021 Dec;523:330-338. doi: 10.1016/j.cca.2021.10.001. Epub 2021 Oct 5.
Clin Chim Acta. 2021.
PMID: 34624274
Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents.
Ababneh NA, Ali D, Al-Kurdi B, Sallam M, Alzibdeh AM, Salah B, Ryalat AT, Azab B, Sharrack B, Awidi A.
Ababneh NA, et al. Among authors: ryalat at.
PLoS One. 2020 Aug 4;15(8):e0236808. doi: 10.1371/journal.pone.0236808. eCollection 2020.
PLoS One. 2020.
PMID: 32750061
Free PMC article.
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Establishment of (JUCTCi007-A) iPSC line from a patient with congenital myasthenic syndrome (CMS) carrying a homozygous mutation p.Arg331Trp (c.991C > T) in the CHRNE gene.
Ababneh NA, Al-Kurdi B, Ali D, Abuarqoub D, Barham R, Ryalat AT, Awidi A.
Ababneh NA, et al. Among authors: ryalat at.
Stem Cell Res. 2020 Jul 3;47:101906. doi: 10.1016/j.scr.2020.101906. Online ahead of print.
Stem Cell Res. 2020.
PMID: 32645605
Free article.
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Generation and characterization of induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from a patient with ataxia with oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation in the APTX gene.
Ababneh NA, Al-Kurdi B, Ali D, Abuarqoub D, Barham R, Alzibdeh AM, Khanfar AN, Altantawi AM, Ryalat AT, Sharrack B, Awidi A.
Ababneh NA, et al. Among authors: ryalat at.
Stem Cell Res. 2020 Oct;48:101925. doi: 10.1016/j.scr.2020.101925. Epub 2020 Jul 25.
Stem Cell Res. 2020.
PMID: 32769066
Free article.
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Establishment of a human induced pluripotent stem cell line, JUCTCi012-A, from multiple symmetric lipomatosis (MSL) patient carrying a homozygous Arg707Trp (c.2119C > T) mutation in the MFN2 gene.
Ababneh NA, Ali D, Barham R, Al-Kurdi B, Sharar N, Al Hadidi S, Qanno' O, Ryalat AT, Salah B, Awidi A.
Ababneh NA, et al. Among authors: ryalat at.
Stem Cell Res. 2020 Oct;48:101967. doi: 10.1016/j.scr.2020.101967. Epub 2020 Aug 31.
Stem Cell Res. 2020.
PMID: 32916636
Free article.
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Myelopathy associated with age-related cervical disc herniation: a retrospective review of magnetic resonance images.
Al-Ryalat NT, Saleh SA, Mahafza WS, Samara OA, Ryalat AT, Al-Hadidy AM.
Al-Ryalat NT, et al. Among authors: ryalat at.
Ann Saudi Med. 2017 Mar-Apr;37(2):130-137. doi: 10.5144/0256-4947.2017.130.
Ann Saudi Med. 2017.
PMID: 28377542
Free PMC article.
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