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1 Ergebnisse
1
De Novo Variants in CNOT1, a Central Component of the CCR4-..:
Vissers, Lisenka E L M
;
Kalvakuri, Sreehari
;
de Boer, Elke
...
boreal:260411. , 2020
Link:
http://hdl.handle.net/2078.1/260411
RT Journal T1
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay
UL https://suche.suub.uni-bremen.de/peid=base-ftunistlouisbrus:oai:dial.uclouvain.be:boreal:260411&Exemplar=1&LAN=DE A1 Vissers, Lisenka E L M A1 Kalvakuri, Sreehari A1 de Boer, Elke A1 Geuer, Sinje A1 Oud, Machteld A1 van Outersterp, Inge A1 Kwint, Michael A1 Witmond, Melde A1 Kersten, Simone A1 Polla, Daniel L A1 Weijers, Dilys A1 Begtrup, Amber A1 McWalter, Kirsty A1 Ruiz, Anna A1 Gabau, Elisabeth A1 Morton, Jenny E V A1 Griffith, Christopher A1 Weiss, Karin A1 Gamble, Candace A1 Bartley, James A1 Vernon, Hilary J A1 Brunet, Kendra A1 Ruivenkamp, Claudia A1 Kant, Sarina G A1 Kruszka, Paul A1 Larson, Austin A1 Afenjar, Alexandra A1 Billette de Villemeur, Thierry A1 Nugent, Kimberly A1 DDD Study A1 Raymond, F Lucy A1 Venselaar, Hanka A1 Demurger, Florence A1 Soler-Alfonso, Claudia A1 Li, Dong A1 Bhoj, Elizabeth A1 Hayes, Ian A1 Hamilton, Nina Powell A1 Ahmad, Ayesha A1 Fisher, Rachel A1 van den Born, Myrthe A1 Willems, Marjolaine A1 Sorlin, Arthur A1 Delanne, Julian A1 Moutton, Sebastien A1 Christophe, Philippe A1 Mau-Them, Frederic Tran A1 Vitobello, Antonio A1 Goel, Himanshu A1 Massingham, Lauren A1 Phornphutkul, Chanika A1 Schwab, Jennifer A1 Keren, Boris A1 Charles, Perrine A1 Vreeburg, Maaike A1 De Simone, Lenika A1 Hoganson, George A1 Iascone, Maria A1 Milani, Donatella A1 Evenepoel, Lucie A1 Revencu, Nicole A1 Ward, D Isum A1 Burns, Kaitlyn A1 Krantz, Ian A1 Raible, Sarah E A1 Murrell, Jill R A1 Wood, Kathleen A1 Cho, Megan T A1 van Bokhoven, Hans A1 Muenke, Maximilian A1 Kleefstra, Tjitske A1 Bodmer, Rolf A1 de Brouwer, Arjan P M PB Cell Press YR 2020 K1 Alleles K1 Developmental Disabilities K1 Female K1 Gene Expression K1 Genetic Variation K1 Haploinsufficiency K1 Heterozygote K1 Humans K1 Male K1 Nervous System Malformations K1 Neurodevelopmental Disorders K1 Nuclear Receptor Subfamily 4 K1 Group A K1 Member 2 K1 Phenotype K1 Protein Stability K1 RNA K1 Receptors K1 CCR4 K1 Transcription Factors K1 CCR4-NOT complex K1 CNOT1 K1 Drosophila K1 de novo mutations K1 developmental delay K1 exome sequencing K1 genomics K1 intellectual disability K1 neurodevelopment JF boreal:260411 LK http://hdl.handle.net/2078.1/260411 DO http://hdl.handle.net/2078.1/260411 SF ELIB - SuUB Bremen
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