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Journal of the Royal Anthropological Institute, ISSN 1359-0987, 06/2015, Volume 21, Issue 2, pp. 487 - 488
Journal Article
Nature Genetics, ISSN 1061-4036, 2009, Volume 41, Issue 5, pp. 535 - 543
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2008, Volume 40, Issue 3, pp. 322 - 328
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 03/2013, Volume 21, Issue 3, pp. 310 - 316
Journal Article
by Mefford, Heather C and Sharp, Andrew J and Baker, Carl and Itsara, Andy and Jiang, Zhaoshi and Buysse, Karen and Huang, Shuwen and Maloney, Viv K and Crolla, John A and Baralle, Diana and Collins, Amanda and Mercer, Catherine and Norga, Koen and de Ravel, Thomy and Devriendt, Koen and Bongers, Ernie M.H.F and de Leeuw, Nicole and Reardon, William and Gimelli, Giorgio and Gimelli, Stefania and Bena, Frederique and Hennekam, Raoul C and Male, Alison and Gaunt, Lorraine and Clayton-Smith, Jill and Simonic, Ingrid and Park, Soo Mi and Mehta, Sarju G and Nik-Zainal, Serena and Woods, C. Geoffrey and Firth, Helen V and Parkin, Georgina and Fichera, Marco and Reitano, Santina and Giudice, Mariangela Lo and Li, Kelly E and Casuga, Iris and Broomer, Adam and Conrad, Bernard and Schwerzmann, Markus and Räber, Lorenz and Gallati, Sabina and Striano, Pasquale and Coppola, Antonietta and Tolmie, John L and Tobias, Edward S and Lilley, Chris and Armengol, Lluis and Spysschaert, Yves and Verloo, Patrick and De Coene, Anja and Goossens, Linde and Mortier, Geert and Speleman, Frank and van Binsbergen, Ellen and Nelen, Marcel R and Hochstenbach, Ron and Poot, Martin and Gallagher, Louise and Gill, Michael and McClellan, Jon and King, Mary-Claire and Regan, Regina and Skinner, Cindy and Stevenson, Roger E and Antonarakis, Stylianos E and Chen, Caifu and Estivill, Xavier and Menten, Björn and Gribble, Susan and Schwartz, Charles E and Schwartz, Stuart and Sutcliffe, James S and Walsh, Tom and Knight, Samantha J.L and Sebat, Jonathan and Romano, Corrado and Veltman, Joris A and de Vries, Bert B.A and Vermeesch, Joris R and Barber, John C.K and Willatt, Lionel and Tassabehji, May and Eichler, Evan E
The New England Journal of Medicine, ISSN 0028-4793, 10/2008, Volume 359, Issue 16, pp. 1685 - 1699
This study shows an association between a broad range of phenotypes and either deletion or duplication of a genomic segment at chromosome 1q21.1, suggesting a... 
Genotype & phenotype | Pediatrics | Pathology | Molecular biology | Chromosomes
Journal Article
Journal Article
Journal Article
BMC Medical Genomics, ISSN 1755-8794, 2013, Volume 6, Issue 1, pp. 1 - 1
Journal Article
Genetics in Medicine, ISSN 1098-3600, 04/2019, Volume 21, Issue 4, pp. 816 - 825
Purpose: To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare... 
CNV | phenotypic variability | 16p11.2 deletion | autism | modifier | SUPPORTS | SCHIZOPHRENIA | MODEL | REARRANGEMENTS | PENETRANCE | GENETICS & HEREDITY | 16P12.1 | MUTATIONS | DELETIONS | EXPRESSION | Life Sciences | Genetics | Human genetics
Journal Article
Epigenetics and Chromatin, ISSN 1756-8935, 03/2017, Volume 10, Issue 1, p. 10
Journal Article