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An HNRNPK-specific DNA methylation signature makes sense of..:
Choufani, Sanaa
;
McNiven, Vanda
;
Cytrynbaum, Cheryl
...
https://www.repository.cam.ac.uk/handle/1810/361022. , 2022
Link:
https://www.repository.cam.ac.uk/handle/1810/361022
RT Journal T1
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
UL https://suche.suub.uni-bremen.de/peid=base-ftunivcam:oai:www.repository.cam.ac.uk:1810_361022&Exemplar=1&LAN=DE A1 Choufani, Sanaa A1 McNiven, Vanda A1 Cytrynbaum, Cheryl A1 Jangjoo, Maryam A1 Adam, Margaret P A1 Bjornsson, Hans T A1 Harris, Jacqueline A1 Dyment, David A A1 Graham, Gail E A1 Nezarati, Marjan M A1 Aul, Ritu B A1 Castiglioni, Claudia A1 Breckpot, Jeroen A1 Devriendt, Koen A1 Stewart, Helen A1 Banos-Pinero, Benito A1 Mehta, Sarju A1 Sandford, Richard A1 Dunn, Carolyn A1 Mathevet, Remi A1 van Maldergem, Lionel A1 Piard, Juliette A1 Brischoux-Boucher, Elise A1 Vitobello, Antonio A1 Faivre, Laurence A1 Bournez, Marie A1 Tran-Mau, Frederic A1 Maystadt, Isabelle A1 Fernández-Jaén, Alberto A1 Alvarez, Sara A1 García-Prieto, Irene Díez A1 Alkuraya, Fowzan S A1 Alsaif, Hessa S A1 Rahbeeni, Zuhair A1 El-Akouri, Karen A1 Al-Mureikhi, Mariam A1 Spillmann, Rebecca C A1 Shashi, Vandana A1 Sanchez-Lara, Pedro A A1 Graham, John M A1 Roberts, Amy A1 Chorin, Odelia A1 Evrony, Gilad D A1 Kraatari-Tiri, Minna A1 Dudding-Byth, Tracy A1 Richardson, Anamaria A1 Hunt, David A1 Hamilton, Laura A1 Dyack, Sarah A1 Mendelsohn, Bryce A A1 Rodríguez, Nicolás A1 Sánchez-Martínez, Rosario A1 Tenorio-Castaño, Jair A1 Nevado, Julián A1 Lapunzina, Pablo A1 Tirado, Pilar A1 Carminho Amaro Rodrigues, Maria-Teresa A1 Quteineh, Lina A1 Innes, A Micheil A1 Kline, Antonie D A1 Au, PY Billie A1 Weksberg, Rosanna PB Elsevier BV; Department of Medical Genetics; http://dx.doi.org/10.1016/j.ajhg.2022.08.014; Am J Hum Genet YR 2022 K1 Au-Kline syndrome K1 DNA methylation signature K1 HNRNPK K1 Kabuki syndrome K1 Okamoto syndrome K1 RNA processing gene K1 epigenetics K1 episignature K1 neurodevelopmental disorder K1 Abnormalities K1 Multiple K1 Chromatin K1 DNA Methylation K1 Epigenesis K1 Genetic K1 Face K1 Hematologic Diseases K1 Heterogeneous-Nuclear Ribonucleoprotein K K1 Humans K1 Intellectual Disability K1 Phenotype K1 Vestibular Diseases JF https://www.repository.cam.ac.uk/handle/1810/361022 LK http://dx.doi.org/https://www.repository.cam.ac.uk/handle/1810/361022 DO https://www.repository.cam.ac.uk/handle/1810/361022 SF ELIB - SuUB Bremen
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