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Journal of Medical Genetics, ISSN 0022-2593, 01/2018, Volume 55, Issue 1, pp. 28 - 38
Journal Article
by Sifrim, Alejandro and Hitz, Marc-Phillip and Wilsdon, Anna and Breckpot, Jeroen and Turki, Saeed H Al and Thienpont, Bernard and McRae, Jeremy and Fitzgerald, Tomas W and Singh, Tarjinder and Swaminathan, Ganesh Jawahar and Prigmore, Elena and Rajan, Diana and Abdul-Khaliq, Hashim and Banka, Siddharth and Bauer, Ulrike M M and Bentham, Jamie and Berger, Felix and Bhattacharya, Shoumo and Bu'Lock, Frances and Canham, Natalie and Colgiu, Irina-Gabriela and Cosgrove, Catherine and Cox, Helen and Daehnert, Ingo and Daly, Allan and Danesh, John and Fryer, Alan and Gewillig, Marc and Hobson, Emma and Hoff, Kirstin and Homfray, Tessa and Kahlert, Anne-Karin and Ketley, Ami and Kramer, Hans-Heiner and Lachlan, Katherine and Lampe, Anne Katrin and Louw, Jacoba J and Manickara, Ashok Kumar and Manase, Dorin and McCarthy, Karen P and Metcalfe, Kay and Moore, Carmel and Newbury-Ecob, Ruth and Omer, Seham Osman and Ouwehand, Willem H and Park, Soo-Mi and Parker, Michael J and Pickardt, Thomas and Pollard, Martin O and Robert, Leema and Roberts, David J and Sambrook, Jennifer and Setchfield, Kerry and Stiller, Brigitte and Thornborough, Chris and Toka, Okan and Watkins, Hugh and Williams, Denise and Wright, Michael and Mital, Seema and Daubeney, Piers E F and Keavney, Bernard and Goodship, Judith and Abu-Sulaiman, Riyadh Mahdi and Klaassen, Sabine and Wright, Caroline F and Firth, Helen V and Barrett, Jeffrey C and Devriendt, Koenraad and FitzPatrick, David R and Brook, J David and Hurles, Matthew E and INTERVAL Study and Deciphering Developmental Disorders Study and UK10K Consortium
Nature genetics, 09/2016, Volume 48, Issue 9, p. 1060
Congenital heart defects (CHDs) have a neonatal incidence of 0.8-1% (refs. 1,2). Despite abundant examples of monogenic CHD in humans and mice, CHD has a low... 
Protein Kinase C - genetics | Sequence Deletion | CDC2 Protein Kinase - genetics | Humans | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Mutation - genetics | Autoantigens - genetics | Syndrome | Heart Defects, Congenital - genetics | Exome - genetics | CDC2 Protein Kinase - chemistry | Female | Protein Conformation
Journal Article
by Küry, S and Woerden, Geeske and Besnard, T and Proietti-Onori, Martina and Latypova, X and Towne, M.C and Cho, Megan T and Prescott, Trine and Ploeg, Melissa and Sanders, S and Stessman, H.A.F and Pujol, A and Distel, Ben and Robak, L.A and Bernstein, J.A and Denommé-Pichon, A.-S and Lesca, G and Sellars, E.A and Berg, J and Carré, W and Busk, ØL and Bon, Bregje and Waugh, J.L and Deardorff, Matthew and Hoganson, G.E and Bosanko, K.B and Johnson, D.S and Dabir, T and Holla, ØL and Sarkar, A and Tveten, K and de Bellescize, J and Braathen, G.J and Terhal, Paulien and Grange, D.K and Haeringen, Arie and Lam, C and Mirzaa, Ghayda and Burton, J and Bhoj, E.J and Douglas, J and Santani, A.B and Nesbitt, A.I and Helbig, K.L and Anews, M.V and Begtrup, A and Tang, S and van Gassen, Koen L.I and Juusola, J and Foss, K and Enns, Gregory and Moog, U and Hinderhofer, K and Paramasivam, N and Lincoln, S and Kusako, B.H and Lindenbaum, P and Charpentier, E and Nowak, C.B and Cherot, E and Simonet, T and Ruivenkamp, Claudia and Hahn, Sihoun and Brownstein, C.A and Xia, F and Schmitt, S and Deb, W and Bonneau, Dominique and Nizon, M and Quinquis, D and Chelly, Jamel and Rudolf, G and Sanlaville, Damien and Parent, P and Gilbert-Dussardier, B and Toutain, Annick and Sutton, V. Reid and Thies, J and Peart-Vissers, L.E.L.M and Boisseau, P and Vincent, M and Grabrucker, A.M and Dubourg, C and Tan, W.-H and Verbeek, Nienke and Granzow, M and Santen, Gijs and Shendure, Jay and Isidor, Bertrand and Pasquier, L and Redon, Richard and Yang, Y and State, Matthew and Kleefstra, Tjitske and Cogné, B and Petrovski, S and Retterer, Kyle and Eichler, Evan and Rosenfeld, Jill and Agrawal, P.B and ...
American journal of human genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 768 - 788
Calcium/calmodulin-dependent protein kinase II (CAMK2) is one of the first proteins shown to be essential for normal learning and synaptic plasticity in mice,... 
CAMK2B | CAMK2A | de novo mutations | CAMK2 | NMDAR | synaptic plasticity | AMPAR | intellectual disability | Life Sciences | Cancer
Journal Article
Wellcome open research, ISSN 2398-502X, 04/2018, Volume 3, pp. 46 - 46
Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first... 
Intellectual disability | Overgrowth | Tatton-Brown-Rahman | DNMT3A | Proteins | Puberty | Genetics | Intellectual disabilities
Journal Article
PLoS genetics, ISSN 1553-7404, 08/2017, Volume 13, Issue 8, pp. e1006957 - e1006957
Journal Article
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