Expanding the phenotype of SLC25A42‐associated mitochondrial encephalomyopathy
Almannai, M., Alasmari, A., Alqasmi, A., Faqeih, E., Al Mutairi, F., Alotaibi, M., Samman, M.M., Eyaid, W., Aljadhai, Y.I., Shamseldin, H.E., Craigen, W., Alkuraya, F.S.
Published in Clinical genetics (01.05.2018)
Published in Clinical genetics (01.05.2018)
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Journal Article
Phenotypic characterization of KCTD3‐related developmental epileptic encephalopathy
Faqeih, E.A., Almannai, M., Saleh, M.M., AlWadei, A.H., Samman, M.M., Alkuraya, F.S.
Published in Clinical genetics (01.05.2018)
Published in Clinical genetics (01.05.2018)
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Journal Article