ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder von Al-Hassnan, Zuhair N, Al-Dosary, Mazhor, Alfadhel, Majid, Faqeih, Eissa A, Alsagob, Maysoon, Kenana, Rosan, Almass, Rawan, Al-Harazi, Olfat S, Al-Hindi, Hindi, Malibari, Omhani I, Almutari, Faten B, Tulbah, Sahar, Alhadeq, Faten, Al-Sheddi, Tarfa, Alamro, Rana, AlAsmari, Ali, Almuntashri, Makki, Alshaalan, Hesham, Al-Mohanna, Futwan A, Colak, Dilek, Kaya, Namik

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Xq21.31-q21.32 duplication underlies intellectual disability in a large family with five affected males von Basit, Sulman, Malibari, Omhani I., Al-Balawi, Alia M., Afzal, Sibtain, Eldardear, Amr Elsayed Mohamed, Ramzan, Khushnooda

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Case report of a novel homozygous variant in a Saudi patient with alpha mannosidosis von Jawad, Rehab, Malibari, Omhani

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A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families von Basit, Sulman, Malibari, Omhani, Al Balwi, Alia Mahmood, Abdusamad, Firoz, Abu Ismail, Feras

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Recurrent mutation in the HMGCL gene in a family segregating HMG-CoA lyase deficiency von Essa, Alharby, Omhani, Malibari, Hamad, S Al Otaibi, Muhammad, Saud, Ghadeer, Al Harbi, Mohammad, I Samman, Sulman, Basit

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