Výsledky vyhledávání - Tohary, Mohamed
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The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype Autor Averdunk, Luisa, Sticht, Heinrich, Surowy, Harald, Lüdecke, Hermann-Josef, Koch-Hogrebe, Margarete, Alsaif, Hessa S., Kahrizi, Kimia, Alzaidan, Hamad, Alawam, Bashayer S., Tohary, Mohamed, Kraus, Cornelia, Endele, Sabine, Wadman, Erin, Kaplan, Julie D., Efthymiou, Stephanie, Najmabadi, Hossein, Reis, André, Alkuraya, Fowzan S., Wieczorek, Dagmar
Vydáno 2021Text -
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Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype Autor Averdunk, Luisa, Sticht, Heinrich, Surowy, Harald, Lüdecke, Hermann‑Josef, Koch‑Hogrebe, Margarete, Alsaif, Hessa S., Kahrizi, Kimia, Alzaidan, Hamad, Alawam, Bashayer S., Tohary, Mohamed, Kraus, Cornelia, Endele, Sabine, Wadman, Erin, Kaplan, Julie D., Efthymiou, Stephanie, Najmabadi, Hossein, Reis, André, Alkuraya, Fowzan S., Wieczorek, Dagmar
Vydáno 2021Text -
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Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans Autor Alzahrani, Fatema, Kuwahara, Hiroyuki, Long, Yongkang, Al-Owain, Mohammed, Tohary, Mohamed, AlSayed, Moeenaldeen, Mahnashi, Mohammed, Fathi, Lana, Alnemer, Maha, Al-Hamed, Mohamed H., Lemire, Gabrielle, Boycott, Kym M., Hashem, Mais, Han, Wenkai, Al-Maawali, Almundher, Al Mahrizi, Feisal, Al-Thihli, Khalid, Gao, Xin, Alkuraya, Fowzan S.
Vydáno 2020Text