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Journal of Medical Genetics, ISSN 0022-2593, 04/2011, Volume 48, Issue 4, pp. 226 - 234
Journal Article
Nature Genetics, ISSN 1061-4036, 01/2014, Volume 46, Issue 5, pp. 510 - 515
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Human Genetics, ISSN 0340-6717, 1/2012, Volume 131, Issue 1, pp. 145 - 156
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American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2018, Volume 176, Issue 4, pp. 925 - 935
Journal Article
by Reijnders, Margot R.F and Miller, Kerry A and Alvi, Mohsan and Goos, Jacqueline A.C and Lees, Melissa M and de Burca, Anna and Henderson, Alex and Kraus, Alison and Mikat, Barbara and de Vries, Bert B.A and Isidor, Bertrand and Kerr, Bronwyn and Marcelis, Carlo and Schluth-Bolard, Caroline and Deshpande, Charu and Ruivenkamp, Claudia A.L and Wieczorek, Dagmar and Baralle, Diana and Blair, Edward M and Engels, Hartmut and Lüdecke, Hermann-Josef and Eason, Jacqueline and Santen, Gijs W.E and Clayton-Smith, Jill and Chandler, Kate and Tatton-Brown, Katrina and Payne, Katelyn and Helbig, Katherine and Radtke, Kelly and Nugent, Kimberly M and Cremer, Kirsten and Strom, Tim M and Bird, Lynne M and Sinnema, Margje and Bitner-Glindzicz, Maria and van Dooren, Marieke F and Alders, Marielle and Koopmans, Marije and Brick, Lauren and Kozenko, Mariya and Harline, Megan L and Klaassens, Merel and Steinraths, Michelle and Cooper, Nicola S and Edery, Patrick and Yap, Patrick and Terhal, Paulien A and van der Spek, Peter J and Lakeman, Phillis and Taylor, Rachel L and Littlejohn, Rebecca O and Pfundt, Rolph and Mercimek-Andrews, Saadet and Stegmann, Alexander P.A and Kant, Sarina G and McLean, Scott and Joss, Shelagh and Swagemakers, Sigrid M.A and Douzgou, Sofia and Wall, Steven A and Küry, Sébastien and Calpena, Eduardo and Koelling, Nils and McGowan, Simon J and Twigg, Stephen R.F and Mathijssen, Irene M.J and Nellaker, Christoffer and Brunner, Han G and Wilkie, Andrew O.M and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study
The American Journal of Human Genetics, ISSN 0002-9297, 06/2018, Volume 102, Issue 6, pp. 1195 - 1203
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 09/2011, Volume 19, Issue 9, pp. 959 - 964
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 06/2018, Volume 102, Issue 6, pp. 1195 - 1203
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Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 01/2018
textabstractNext-generation sequencing is a powerful tool for the discovery of genes related to neurodevelopmental disorders (NDDs). Here, we report the... 
kinase | haploinsufficiency | Tousled-like | facial averaging | intellectual disability
Journal Article
Canadian Family Physician, ISSN 0008-350X, 06/2008, Volume 54, Issue 6, pp. 877 - 883
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 10/2009, Volume 29, Issue 10, pp. 966 - 974
Journal Article