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收藏Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42
Zakaria, Muhammad; Fatima, Ambrin; Klar, Joakim; Wikstrom, Johan; Abdullah, Uzma; Ali, Zafar; Akram, Talia; Tariq, Muhammad; Ahmad, Habib; Schuster, Jens; Baig, Shahid M.; Dahl, Niklas
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收藏Identification of variants in the mitochondrial lysine-tRNA (MT-TK) gene in myoclonic epilepsypathogenicity evaluation and structural characterization by in silico approach
Nadeem, Muhammad S.; Ahmad, Habib; Mohammed, Kaleemuddin; Muhammad, Khushi; Ullah, Inam; Baothman, Othman A. S.; Ali, Nasir; Anwar, Firoz; Zamzami, Mazin A.; Shakoori, Abdul Rauf
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