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Medicine|August 17, 2018
Novel frame shift mutation in ERCC6 leads to a severe form of Cockayne syndrome with postnatal growth failure and early death: A case report and brief literature reviewYao Kou, Mohammad Shboul, Zhihao Wang, et al.
Medicines (Basel, Switzerland)|May 10, 2019
Massive Axial and Appendicular Skeletal Deformities in Connection with Gorham-Stout SyndromeAli Al Kaissi, Sami Bouchoucha, Mohammad Shboul, et al.
Biomedical Reports|July 9, 2025
Spectrum of PAH gene variants in Jordanian patients with phenylalanine hydroxylase deficiencyRajaa Fathallah, Khadeeja Al-Rashed, Alaa Arafat, et al.
Molecular Biology of the Cell|October 26, 2012
Human Asunder promotes dynein recruitment and centrosomal tethering to the nucleus at mitotic entryJeanne N Jodoin, Mohammad Shboul, Poojitha Sitaram, et al.
Biology Open|November 29, 2013
The snRNA-processing complex, Integrator, is required for ciliogenesis and dynein recruitment to the nuclear envelope via distinct mechanismsJeanne N Jodoin, Mohammad Shboul, Todd R Albrecht, et al.
Diagnostics (Basel, Switzerland)|July 27, 2022
Torticollis in Connection with Spine PhenotypeAli Al Kaissi, Nabil Nassib, Sami Bouchoucha, et al.
Clinical Neurology and Neurosurgery|December 17, 2019
Congenital insensitivity to pain with anhidrosis syndrome: A series from JordanAmira Masri, Mohammad Shboul, Aisha Khasawneh, et al.
Clinical Rheumatology|October 20, 2019
Skeletal phenotype/genotype in progressive pseudorheumatoid chondrodysplasiaAli Al Kaissi, Vladimir Kenis, Lamia Ben Jemaa, et al.
Frontiers in Neurology|March 1, 2024
Case report: Dihydropyridine receptor (CACNA1S) congenital myopathy, a novel phenotype with early onset periodic paralysisSamah K Aburahma, Liqa A Rousan, Mohammad Shboul, et al.
Minerva Pediatrics|June 16, 2020
Arthrogryposis is a descriptive term, not a specific disease entity: Escobar Syndrome is an exampleAli Al Kaissi, Sergey Ryabykh, Polina Ochirova, et al.
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