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Gruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 2
2022
Marcogliese, Paul C.; Deal, Samantha L.; Andrews, Jonathan; Harnish, J. Michael; Bhavana, V. Hemanjani; Graves, Hillary K.; Jangam, Sharayu; Luo, Xi; Liu, Ning; Bei, Danqing; Yu-Hsin, Chao; Hull, Brooke; Pei-Tseng, Lee; Pan, Hongling; Bhadane, Pradnya; Mei-Chu, Huang; Longley, Colleen M.; Hsiao-Tua0n, Chao; Hyung-lok, Chung; Haelterman, Nele A.; Kanca, Oguz; Manivannan, Sathiya N.; Rossetti, Linda Z.; German, Ryan J.; Gerard, Amanda; Schwaibold, Eva Maria Christina; Fehr, Sarah; Guerrini, Renzo; Vetro, Annalisa; England, Eleina; Murali, Chaya N.; Barakat, Tahsin Stefan; Dooren, Marieke F. van; Wilke, MartinaSlegtenhorst; Lesca, Gaetan; Sabatier, Isabelle; Chatron, Nicolas; Brownstein, Catherine A.; Madden, Jill A.; Agrawal, Pankaj B.; Keren, Boris; Courtin, Thomas; Perrin, Laurence; Brugger, Melanie; Roser, Timo; Leiz, Steffen; Mau-Them, Frederic Tran; Delanne, Julian; Sukarova-Angelovska, Elena; Trajkova, Slavica; Rosenhahn, Erik; Strehlow, Vincent; Platzer, Konrad; Keller, Roberto; Pavinato, Lisa; Brusco, Alfredo; Rosenfeld, Jill A.; Marom, Ronit; Wangler, Michael F. und Yamamoto, Shinya
(2022):
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
In: Cell Reports, Bd. 38, Nr. 11, 110517
2019
Murakami, Yoshiko; Thi Tuyet Mai, Nguyen; Baratang, Nissan; Raju, Praveen K.; Knaus, Alexej; Ellard, Sian; Jones, Gabriela; Lace, Baiba; Rousseau, Justine; Ajeawung, Norbert Fonya; Kamei, Atsushi; Minase, Gaku; Akasaka, Manami; Araya, Nami; Koshimizu, Eriko; van den Ende, Jenneke; Erger, Florian; Altmüller, Janine; Krumina, Zita; Strautmanis, Jurgis; Inashkina, Inna; Stavusis, Janis; El-Gharbawy, Areeg; Sebastian, Jessica; Puri, Ratna Dua; Kulshrestha, Samarth; Verma, Ishwar C.; Maier, Esther M.; Haack, Tobias B.; Israni, Anil; Baptista, Julia; Gunning, Adam; Rosenfeld, Jill A.; Liu, Pengfei; Joosten, Marieke; Rocha, Maria Eugenia; Hashem, Mais O.; Aldhalaan, Hesham M.; Alkuraya, Fowzan S.; Miyatake, Satoko; Matsumoto, Naomichi; Krawitz, Peter M.; Rossignol, Elsa; Kinoshita, Taroh und Campeau, Philippe M.
(2019):
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
In: American Journal of Human Genetics, Bd. 105, Nr. 2: S. 384-394