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by Siekierska, Aleksandra and Stamberger, Hannah and Deconinck, Tine and Oprescu, Stephanie N and Partoens, Michèle and Zhang, Yifan and Sourbron, Jo and Adriaenssens, Elias and Mullen, Patrick and Wiencek, Patrick and Hardies, Katia and Lee, Jeong-Soo and Giong, Hoi-Khoanh and Distelmaier, Felix and Elpeleg, Orly and Helbig, Katherine L and Hersh, Joseph and Isikay, Sedat and Jordan, Elizabeth and Karaca, Ender and Kecskes, Angela and Lupski, James R and Kovacs-Nagy, Reka and May, Patrick and Narayanan, Vinodh and Pendziwiat, Manuela and Ramsey, Keri and Rangasamy, Sampathkumar and Shinde, Deepali N and Spiegel, Ronen and Timmerman, Vincent and von Spiczak, Sarah and Helbig, Ingo and Balak, Chris and Belnap, Newell and Claasen, Ana and Courtright, Amanda and de Both, Matt and Huentelman, Matthew J and Naymik, Marcus and Richholt, Ryan and Siniard, Ashley L and Szelinger, Szabolcs and Craig, David W and Schrauwen, Isabelle and Afawi, Zaid and Balling, Rudi and Baulac, Stéphanie and Barišić, Nina and Caglayan, Hande S and Craiu, Dana and Guerrero-López, Rosa and Guerrini, Renzo and Hjalgrim, Helle and Jähn, Johanna and Klein, Karl Martin and Leguern, Eric and Lemke, Johannes R and Lerche, Holger and Marini, Carla and Møller, Rikke S and Muhle, Hiltrud and Rosenow, Felix and Serratosa, Jose and Suls, Arvid and Stephani, Ulrich and Štěrbová, Katalin and Striano, Pasquale and Zara, Federico and Weckhuysen, Sarah and Francklyn, Christopher and Antonellis, Anthony and de Witte, Peter and De Jonghe, Peter and C4RCD Res Grp and AR Working Grp EuroEPINOMICS RES and AR working group of the EuroEPINOMICS RES Consortium and C4RCD Research Group
Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 708 - 15
Aminoacyl tRNA synthetases (ARSs) link specific amino acids with their cognate transfer RNAs in a critical early step of protein translation. Mutations in ARSs... 
MUTATIONS CAUSE | HYPOMYELINATION | BIOGENESIS | MECHANISM | ILAE COMMISSION | MULTIDISCIPLINARY SCIENCES | GENES | PHENOTYPE | ONSET | TRNA(VAL) | TRANSFER-RNA-SYNTHETASE | Yeast | tRNA | Epilepsy | Amino acids | Zebrafish | Microcephaly | Neurodevelopmental disorders | Proteins | Neurological diseases | Microencephaly | Encephalopathy | Complementation | Mutation | Age
Journal Article
Neuropsychopharmacology, ISSN 0893-133X, 02/2019, Volume 44, Issue 3, pp. 620 - 628
Journal Article
F1000Research, ISSN 2046-1402, 2017, Volume 6, p. 553
Mutations disrupting presynaptic protein TBC1D24 are associated with a variable neurological phenotype, including DOORS syndrome, myoclonic epilepsy,... 
Intellectual disabilities | Medical Genetics
Journal Article
BMC Psychiatry, ISSN 1471-244X, 05/2016, Volume 16, Issue 129, p. 129
Journal Article
New Zealand Plant Protection, ISSN 1175-9003, 01/2018, Volume 71, p. 355
Needle diseases of Pinus radiata caused by Phytophthora pluvialis and Phythophthora kernoviae have been increasingly recognised since the discovery of red... 
Pathology | Needlecast | Forests | Automation | Diagnostic systems | Pine trees | Deoxyribonucleic acid--DNA
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 716 - 724
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 02/2018, Volume 27, Issue 4, pp. 691 - 705
Abstract UBTF (upstream binding transcription factor) exists as two isoforms; UBTF1 regulates rRNA transcription by RNA polymerase 1, whereas UBTF2 regulates... 
INTELLECTUAL DISABILITY | NUCLEOLAR STRESS | RIBOSOMAL TRANSCRIPTION | RNA-POLYMERASE-I | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | FACTOR UBF | TRANSCRIPTION FACTOR | ERK PHOSPHORYLATION | HUNTINGTONS-DISEASE | NONSENSE MUTATION | PARKINSONS-DISEASE
Journal Article
Journal Article