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Bi-allelic loss-of-function variants in PPFIBP1 cause a neu..:
Rosenhahn, Erik
;
O'Brien, Thomas J
;
Zaki, Maha S
...
American Journal of Human Genetics, 0002-9297, 2022, 109:8, s. 1421-1435. , 2022
Link:
http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-21694
RT Journal T1
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
UL https://suche.suub.uni-bremen.de/peid=base-ftskoevdehoeg:oai:DiVA.org:his-21694&Exemplar=1&LAN=DE A1 Rosenhahn, Erik A1 O'Brien, Thomas J A1 Zaki, Maha S A1 Sorge, Ina A1 Wieczorek, Dagmar A1 Rostasy, Kevin A1 Vitobello, Antonio A1 Nambot, Sophie A1 Alkuraya, Fowsan S A1 Hashem, Mais O A1 Alhashem, Amal A1 Tabarki, Brahim A1 Alamri, Abdullah S A1 Al Safar, Ayat H A1 Bubshait, Dalal K A1 Alahmady, Nada F A1 Gleeson, Joseph G A1 Abdel-Hamid, Mohamed S A1 Lesko, Nicole A1 Ygberg, Sofia A1 Correia, Sandrina P A1 Wredenberg, Anna A1 Alavi, Shahryar A1 Seyedhassani, Seyed M A1 Ebrahimi Nasab, Mahya A1 Hussien, Haytham A1 Omar, Tarek E. I A1 Harzallah, Ines A1 Touraine, Renaud A1 Tajsharghi, Homa A1 Morsy, Heba A1 Houlden, Henry A1 Shahrooei, Mohammad A1 Ghavideldarestani, Maryam A1 Abdel-Salam, Ghada M. H A1 Torella, Annalaura A1 Zanobio, Mariateresa A1 Terrone, Gaetano A1 Brunetti-Pierri, Nicola A1 Omrani, Abdolmajid A1 Hentschel, Julia A1 Lemke, Johannes R A1 Sticht, Heinrich A1 Abou Jamra, Rami A1 Brown, Andre E. X A1 Maroofian, Reza A1 Platzer, Konrad PB Högskolan i Skövde, Institutionen för hälsovetenskaper; Högskolan i Skövde, Forskningsmiljön hälsa, hållbarhet och digitalisering; Institute of Human Genetics, University of Leipzig Medical Center, Germany; MRC London Institute of Medical Sciences, United Kingdom; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt; Department of Pediatric Radiology, University Hospital Leipzig, Germany; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Germany; Department of Pediatric Neurology, Children's and Adolescents' Hospital Datteln, Witten/Herdecke University, Germany; UF6254 Innovation en Diagnostic Genomique des Maladies Rares, CHU Dijon Bourgogne, FHU translad, Génétique des Anomalies du Développement, INSERM UMR 1231, Université de Bourgogne-Franche Comté, Dijon, Franc... YR 2022 K1 Acetylcholinesterase K1 Animals K1 Drosophila melanogaster K1 Epilepsy K1 Loss of Heterozygosity K1 Microcephaly K1 Nervous System Malformations K1 Neurodevelopmental Disorders K1 Pedigree K1 animal K1 genetics K1 heterozygosity loss K1 mental disease K1 nervous system malformation K1 Medical Genetics K1 Medicinsk genetik K1 Clinical Laboratory Medicine K1 Klinisk laboratoriemedicin K1 Neurology K1 Neurologi K1 Biomedical Laboratory Science/Technology K1 Biomedicinsk laboratorievetenskap/teknologi K1 Cell and Molecular Biology K1 Cell- och molekylärbiologi JF American Journal of Human Genetics, 0002-9297, 2022, 109:8, s. 1421-1435 LK http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-21694 DO http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-21694 SF ELIB - SuUB Bremen
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