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1 Ergebnisse
1
A Recurrent De Novo PACS2 Heterozygous Missense Variant Cau..:
Olson, Heather E
;
Jean-Marçais, Nolwenn
;
Yang, Edward
...
https://research.rug.nl/en/publications/f6ee00c8-b29a-49fd-aef2-9930c0bba171. , 2018
Link:
https://hdl.handle.net/11370/f6ee00c8-b29a-49fd-aef2-9..
RT Journal T1
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
UL https://suche.suub.uni-bremen.de/peid=base-ftunigroningenpu:oai:pure.rug.nl:publications_f6ee00c8-b29a-49fd-aef2-9930c0bba171&Exemplar=1&LAN=DE A1 Olson, Heather E A1 Jean-Marçais, Nolwenn A1 Yang, Edward A1 Heron, Delphine A1 Tatton-Brown, Katrina A1 van der Zwaag, Paul A A1 Bijlsma, Emilia K A1 Krock, Bryan L A1 Backer, E A1 Kamsteeg, Erik-Jan A1 Sinnema, Margje A1 Reijnders, Margot R F A1 Bearden, David A1 Begtrup, Amber A1 Telegrafi, Aida A1 Lunsing, Roelineke J A1 Burglen, Lydie A1 Lesca, Gaetan A1 Cho, Megan T A1 Smith, Lacey A A1 Sheidley, Beth R A1 Moufawad El Achkar, Christelle A1 Pearl, Phillip L A1 Poduri, Annapurna A1 Skraban, Cara M A1 Tarpinian, Jennifer A1 Nesbitt, Addie I A1 Fransen van de Putte, Dietje E A1 Ruivenkamp, Claudia A L A1 Rump, Patrick A1 Chatron, Nicolas A1 Sabatier, Isabelle A1 De Bellescize, Julitta A1 Guibaud, Laurent A1 Sweetser, David A A1 Waxler, Jessica L A1 Wierenga, Klaas J A1 Donadieu, Jean A1 Narayanan, Vinodh A1 Ramsey, Keri M A1 Nava, Caroline A1 Rivière, Jean-Baptiste A1 Vitobello, Antonio A1 Tran Mau-Them, Frédéric A1 Philippe, Christophe A1 Bruel, Ange-Line A1 Duffourd, Yannis A1 Thomas, Laurel A1 Lelieveld, Stefan H A1 Schuurs-Hoeijmakers, Janneke YR 2018 K1 INTELLECTUAL DISABILITY K1 MENDELIAN DISORDERS K1 CLINICAL EPILEPSY K1 MUTATIONS K1 DISEASE K1 APOPTOSIS K1 PHENOTYPE K1 DIAGNOSIS K1 PROTEINS K1 GENETICS JF https://research.rug.nl/en/publications/f6ee00c8-b29a-49fd-aef2-9930c0bba171 LK http://dx.doi.org/https://hdl.handle.net/11370/f6ee00c8-b29a-49fd-aef2-9930c0bba171 DO https://hdl.handle.net/11370/f6ee00c8-b29a-49fd-aef2-9930c0bba171 SF ELIB - SuUB Bremen
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