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1Academic Journal
المؤلفون: Dias, Cristina, Estruch, Sara B, Graham, Sarah A, McRae, Jeremy, Sawiak, Stephen J, Hurst, Jane A, Joss, Shelagh K, Holder, Susan E, Morton, Jenny E V, Turner, Claire, Thevenon, Julien, Mellul, Kelly, Sánchez-Andrade, Gabriela, Ibarra-Soria, Ximena, Deriziotis, Pelagia, Santos, Rui F, Lee, Song-Choon, Faivre, Laurence, Kleefstra, Tjitske, Liu, Pentao, Hurles, Mathew E, Fisher, Simon E, Logan, Darren W.
المصدر: Dias , C , Estruch , S B , Graham , S A , McRae , J , Sawiak , S J , Hurst , J A , Joss , S K , Holder , S E , Morton , J E V , Turner , C , Thevenon , J , Mellul , K , Sánchez-Andrade , G , Ibarra-Soria , X , Deriziotis , P , Santos , R F , Lee , S-C , Faivre , L , Kleefstra , T , Liu , P , Hurles , M E & Fisher , S E & ....
مصطلحات موضوعية: Animals, Carrier Proteins/chemistry, Cerebral Cortex/metabolism, Chromatin Assembly and Disassembly/genetics, Codon, Nonsense/genetics, Cognition Disorders/genetics, Frameshift Mutation/genetics, Haploinsufficiency/genetics, Hippocampus/metabolism, Humans, Intellectual Disability/genetics, Male, Mice, Microcephaly/genetics, Mutation, Missense/genetics, Neurodevelopmental Disorders/genetics, Nuclear Proteins/chemistry, Phenotype, Social Behavior, Syndrome, Transcription Factors/chemistry, Transcription, Genetic, Transcriptome
وصف الملف: application/pdf
الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/7bac2c7b-2843-4c7e-b9b7-d21307408416
https://doi.org/10.1016/j.ajhg.2016.05.030
https://kclpure.kcl.ac.uk/ws/files/141954613/BCL11A_Haploinsufficiency_Causes_DIAS_Publishedonline21July2016_GOLD_VoR_CC_BY_.pdf
http://www.scopus.com/inward/record.url?scp=84994127960&partnerID=8YFLogxK -
2Academic Journal
المؤلفون: Dias, Cristina, McDonald, Allison, Sincan, Murat, Rupps, Rosemarie, Markello, Thomas, Salvarinova, Ramona, Santos, Rui F, Menghrajani, Kamal, Ahaghotu, Chidi, Sutherland, Darren P, Fortuno, Edgardo S, Kollmann, Tobias R, Demos, Michelle, Friedman, Jan M, Speert, David P, Gahl, William A, Boerkoel, Cornelius F
المصدر: European Journal of Human Genetics ; volume 21, issue 11, page 1232-1239 ; ISSN 1018-4813 1476-5438
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3Academic Journal
المؤلفون: Bradley, Nori L., Khashoggi, Khalid, Santos, Rui F., Murphy, James J.
المصدر: Journal of Pediatric Surgery ; volume 48, issue 2, page 475-477 ; ISSN 0022-3468
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4Academic Journal
المؤلفون: Reaes Pinto, Paula, Gorgel Pinto, António, Kipöz, Şolen
المساهمون: Joanaz de Melo, João, Disterheft, Antje, Caeiro, Sandra, Santos, Rui F., Ramos, Tomás B.
مصطلحات موضوعية: Cork Production, Material Culture, Social Sustainability, Social Arts and Design, Codesign, Social Innovation
Relation: Reaes Pinto, Paula; http://hdl.handle.net/10174/20657; CHAIA; pmrp@uevora.pt; gorgelpinto@gmail.com; solenk6@gmail.com; 743
الاتاحة: http://hdl.handle.net/10174/20657