المؤلفون: Rosenhahn, Erik, O'Brien, Thomas J., Zaki, Maha S., Sorge, Ina, Wieczorek, Dagmar, Rostasy, Kevin, Vitobello, Antonio, Nambot, Sophie, Alkuraya, Fowsan S., Hashem, Mais O., Alhashem, Amal, Tabarki, Brahim, Alamri, Abdullah S., Al Safar, Ayat H., Bubshait, Dalal K., Alahmady, Nada F., Gleeson, Joseph G., Abdel-Hamid, Mohamed S., Lesko, Nicole, Ygberg, Sofia, Correia, Sandrina P., Wredenberg, Anna, Alavi, Shahryar, Seyedhassani, Seyed M., Ebrahimi Nasab, Mahya, Hussien, Haytham, Omar, Tarek E. I., Harzallah, Ines, Touraine, Renaud, Tajsharghi, Homa, Morsy, Heba, Houlden, Henry, Shahrooei, Mohammad, Ghavideldarestani, Maryam, Abdel-Salam, Ghada M. H., Torella, Annalaura, Zanobio, Mariateresa, Terrone, Gaetano, Brunetti-Pierri, Nicola, Omrani, Abdolmajid, Hentschel, Julia, Lemke, Johannes R., Sticht, Heinrich, Abou Jamra, Rami, Brown, Andre E. X., Maroofian, Reza, Platzer, Konrad

المصدر: American Journal of Human Genetics. 109(8):1421-1435

مصطلحات موضوعية: Acetylcholinesterase, Animals, Drosophila melanogaster, Epilepsy, Loss of Heterozygosity, Microcephaly, Nervous System Malformations, Neurodevelopmental Disorders, Pedigree, animal, genetics, heterozygosity loss, mental disease, nervous system malformation, Translationell medicin TRIM, Translational Medicine TRIM

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-21694
https://doi.org/10.1016/j.ajhg.2022.06.008
https://his.diva-portal.org/smash/get/diva2:1688208/FULLTEXT01.pdf

المؤلفون: Chatron, Nicolas, Becker, Felicitas, Morsy, Heba, Schmidts, Miriam, Hardies, Katia, Tuysuz, Beyhan, Roselli, Sandra, Najafi, Maryam, Alkaya, Dilek Uludag, Ashrafzadeh, Farah, Nabil, Amira, Omar, Tarek, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Hussien, Haytham, Kok, Fernando, Ramos, Luiza, Gunes, Nilay, Bilguvar, Kaya, Labalme, Audrey, Alix, Eudeline, Sanlaville, Damien, de Bellescize, Julitta, Poulat, Anne-Lise, Moslemi, Ali-Reza, Lerche, Holger, May, Patrick, Lesca, Gaetan, Weckhuysen, Sarah, Tajsharghi, Homa

المصدر: Brain. 143(5):1447-1461

مصطلحات موضوعية: arthrogryposis, cleft palate, GAD1, hypsarrhythmia, omphalocele, suppression-burst, Translationell medicin TRIM, Translational Medicine TRIM

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-18483
https://doi.org/10.1093/brain/awaa085
https://his.diva-portal.org/smash/get/diva2:1435960/FULLTEXT01.pdf

المؤلفون: Erik Rosenhahn, Thomas J. O’Brien, Maha S. Zaki, Ina Sorge, Dagmar Wieczorek, Kevin Rostasy, Antonio Vitobello, Sophie Nambot, Fowzan S. Alkuraya, Mais O. Hashem, Amal Alhashem, Brahim Tabarki, Abdullah S. Alamri, Ayat H. Al Safar, Dalal K. Bubshait, Nada F. Alahmady, Joseph G. Gleeson, Mohamed S. Abdel-Hamid, Nicole Lesko, Sofia Ygberg, Sandrina P. Correia, Anna Wredenberg, Shahryar Alavi, Seyed M. Seyedhassani, Mahya Ebrahimi Nasab, Haytham Hussien, Tarek E.I. Omar, Ines Harzallah, Renaud Touraine, Homa Tajsharghi, Heba Morsy, Henry Houlden, Mohammad Shahrooei, Maryam Ghavideldarestani, Ghada M.H. Abdel-Salam, Annalaura Torella, Mariateresa Zanobio, Gaetano Terrone, Nicola Brunetti-Pierri, Abdolmajid Omrani, Julia Hentschel, Johannes R. Lemke, Heinrich Sticht, Rami Abou Jamra, Andre E.X. Brown, Reza Maroofian, Konrad Platzer

المساهمون: Rosenhahn, Erik, O'Brien, Thomas J, Zaki, Maha S, Sorge, Ina, Wieczorek, Dagmar, Rostasy, Kevin, Vitobello, Antonio, Nambot, Sophie, Alkuraya, Fowzan S, Hashem, Mais O, Alhashem, Amal, Tabarki, Brahim, Alamri, Abdullah S, Al Safar, Ayat H, Bubshait, Dalal K, Alahmady, Nada F, Gleeson, Joseph G, Abdel-Hamid, Mohamed S, Lesko, Nicole, Ygberg, Sofia, Correia, Sandrina P, Wredenberg, Anna, Alavi, Shahryar, Seyedhassani, Seyed M, Ebrahimi Nasab, Mahya, Hussien, Haytham, Omar, Tarek E I, Harzallah, Ine, Touraine, Renaud, Tajsharghi, Homa, Morsy, Heba, Houlden, Henry, Shahrooei, Mohammad, Ghavideldarestani, Maryam, Abdel-Salam, Ghada M H, Torella, Annalaura, Zanobio, Mariateresa, Terrone, Gaetano, Brunetti-Pierri, Nicola, Omrani, Abdolmajid, Hentschel, Julia, Lemke, Johannes R, Sticht, Heinrich, Abou Jamra, Rami, Brown, Andre E X, Maroofian, Reza, Platzer, Konrad, European Research Council, J O'Brien, Thoma, S Zaki, Maha, S Alkuraya, Fowzan, O Hashem, Mai, S Alamri, Abdullah, H Al Safar, Ayat, K Bubshait, Dalal, F Alahmady, Nada, G Gleeson, Joseph, S Abdel-Hamid, Mohamed, P Correia, Sandrina, M Seyedhassani, Seyed, I Omar, Tarek E, H Abdel-Salam, Ghada M, BRUNETTI PIERRI, Nicola, R Lemke, Johanne, X Brown, Andre E

المصدر: American Journal of Human Genetics

مصطلحات موضوعية: Neurologi, Cell- och molekylärbiologi, Loss of Heterozygosity, ORGANIZATION, Nervous System Malformations, LIPRINS, mental disease, Nervous System Malformation, Biomedicinsk laboratorievetenskap/teknologi, nervous system malformation, Genetics, Animals, animal, genetics, Biomedical Laboratory Science/Technology, 11 Medical and Health Sciences, Genetics (clinical), Medicinsk genetik, Genetics & Heredity, Science & Technology, Epilepsy, Clinical Laboratory Medicine, Animal, heterozygosity loss, 06 Biological Sciences, Pedigree, Klinisk laboratoriemedicin, Drosophila melanogaster, Neurology, Neurodevelopmental Disorders, Acetylcholinesterase, Microcephaly, CAENORHABDITIS-ELEGANS, Life Sciences & Biomedicine, Medical Genetics, Cell and Molecular Biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a2077c97370ff1a1689ee1973c2d321
https://hdl.handle.net/11591/482556