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Journal Article
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 10, pp. 1063 - 1071
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2012, Volume 90, Issue 6, pp. 1094 - 1101
Journal Article
by Santen, Gijs W. E and Aten, Emmelien and Vulto-van Silfhout, Anneke T and Pottinger, Caroline and van Bon, Bregje W. M and van Minderhout, Ivonne J. H. M and Snowdowne, Ronelle and van der Lans, Christian A. C and Boogaard, Merel and Linssen, Margot M. L and Vijfhuizen, Linda and van der Wielen, Michiel J. R and Vollebregt, M. J. Ellen and Breuning, Martijn H and Kriek, Marjolein and van Haeringen, Arie and den Dunnen, Johan T and Hoischen, Alexander and Clayton-Smith, Jill and de Vries, Bert B. A and Hennekam, Raoul C. M and van Belzen, Martine J and Almureikhi, Mariam and Baban, Anwar and Barbosa, Mafalda and Ben-Omran, Tawfeg and Berry, Katherine and Bigoni, Stefania and Boute, Odile and Brueton, Louise and van der Burgt, Ineke and Canham, Natalie and Chandler, Kate E and Chrzanowska, Krystyna and Collins, Amanda L and de Toni, Teresa and Dean, John and den Hollander, Nicolette S and Flore, Leigh Anne and Fryer, Alan and Gardham, Alice and Graham, John M and Harrison, Victoria and Horn, Denise and Jongmans, Marjolijn C and Josifova, gana and Kant, Sarina G and Kapoor, Seema and Kingston, Helen and Kini, Usha and Kleefstra, Tjitske and Krajewska-Walasek, Małgorzata and Kramer, Nancy and Maas, Saskia M and Maciel, Patricia and Mancini, Grazia M. S and Maystadt, Isabelle and McKee, Shane and Milunsky, Jeff M and Nampoothiri, Sheela and Newbury-Ecob, Ruth and Nikkel, Sarah M and Parker, Michael J and Pérez-Jurado, Luis A and Robertson, Stephen P and Rooryck, Caroline and Shears, Debbie and Silengo, Margherita and Singh, Ankur and Smigiel, Robert and Soares, Gabriela and Splitt, Miranda and Stewart, Helen and Sweeney, Elizabeth and Tassabehji, May and Tuysuz, Beyhan and van Eerde, Albertien M and Vincent-Delorme, Catherine and Wilson, Louise C and Yesil, Gozde and Coffin-Siris Consortium and Coffin-Siris consortium and the Coffin-Siris consortium
Human mutation, ISSN 1059-7794, 2013, Volume 34, Issue 11, pp. 1519 - 1528
Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 4, pp. 440 - 444, S1-2
Journal Article
Nature Genetics, ISSN 1061-4036, 2010, Volume 42, Issue 12, pp. 1109 - 1112
The per-generation mutation rate in humans is high. De novo mutations may compensate for allele loss due to severely reduced fecundity in common... 
MICE | MUTATIONS | GENE | DYNEIN | GENETICS & HEREDITY | Base Sequence | Humans | Exons - genetics | Female | Male | Mutation - genetics | Sequence Analysis, DNA | Intellectual Disability - genetics | Genetic aspects | Research | Gene mutations | Health aspects | Mental retardation | Risk factors | Studies | Candidates | Disease | Genetics | Mutation | Experiments | Chromosomes
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2011, Volume 89, Issue 4, pp. 551 - 563
Journal Article