The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype
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
Published in Journal of molecular medicine (Berlin, Germany) (01.12.2021)
Published in Journal of molecular medicine (Berlin, Germany) (01.12.2021)
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Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype
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
Published in Journal of molecular medicine (Berlin, Germany) (01.12.2021)
Published in Journal of molecular medicine (Berlin, Germany) (01.12.2021)
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Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans
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.
Published in American journal of human genetics (03.12.2020)
Published in American journal of human genetics (03.12.2020)
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Hematological findings associated with tubulin‐folding cofactors D‐related encephalopathy: Expanding the phenotype
Al‐Bakheet, Albandary, Tohary, Mohamed, Khan, Sameena, Chedrawi, Aziza, Edrees, Alaa, Tous, Ehab, Al‐Mousa, Hamoud, Al‐Otaibi, Lefian, AlShahrani, Saif, Alsagob, Maysoon, Al‐Quait, Laila, Almass, Rawan, Al‐Joudi, Haya, Monies, Dorota, Al‐Semari, Abdulaziz, Aldosary, Mazhor, Daghestani, Maha, Colak, Dilek, Kaya, Namik, Al‐Owain, Mohammed
Published in Clinical genetics (01.05.2021)
Published in Clinical genetics (01.05.2021)
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