Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agentsNidaa A. Ababneh, Abdalla Awidi, Dema Ali et al.|PLoS ONE|2020Cited by 8
The utility of whole-exome sequencing in accurate diagnosis of neuromuscular disorders in consanguineous families in JordanNidaa A. Ababneh, Abdalla Awidi, Ban Al-Kurdi et al.|Clinica Chimica Acta|2021Cited by 7
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 geneNidaa A. Ababneh, Abdalla Awidi, Ban Al-Kurdi et al.|Stem Cell Research|2020Cited by 6
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 geneNidaa A. Ababneh, Abdalla Awidi, Dema Ali et al.|Stem Cell Research|2020Cited by 4
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 geneNidaa A. Ababneh, Abdalla Awidi, Ban Al-Kurdi et al.|Stem Cell Research|2020Cited by 1