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	101.	De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. [electronic resource] by Calpena, Eduardo Hervieu, Alexia Kaserer, Teresa Swagemakers, Sigrid M A Goos, Jacqueline A C Popoola, Olajumoke Ortiz-Ruiz, Maria Jesus Barbaro-Dieber, Tina Bownass, Lucy Brilstra, Eva H Brimble, Elise Foulds, Nicola Grebe, Theresa A Harder, Aster V E Lees, Melissa M Monaghan, Kristin G Newbury-Ecob, Ruth A Ong, Kai-Ren Osio, Deborah Reynoso Santos, Francis Jeshira Ruzhnikov, Maura R Z Telegrafi, Aida van Binsbergen, Ellen van Dooren, Marieke F van der Spek, Peter J Blagg, Julian Twigg, Stephen R F Mathijssen, Irene M J Clarke, Paul A Wilkie, Andrew O M Producer: 20200203 In: American journal of human genetics vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	102.	De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder. [electronic resource] by Reijnders, Margot R F Miller, Kerry A Alvi, Mohsan Goos, Jacqueline A C Lees, Melissa M de Burca, Anna Henderson, Alex Kraus, Alison Mikat, Barbara de Vries, Bert B A Isidor, Bertrand Kerr, Bronwyn Marcelis, Carlo Schluth-Bolard, Caroline Deshpande, Charu Ruivenkamp, Claudia A L Wieczorek, Dagmar Baralle, Diana Blair, Edward M Engels, Hartmut Lüdecke, Hermann-Josef Eason, Jacqueline Santen, Gijs W E Clayton-Smith, Jill Chandler, Kate Tatton-Brown, Katrina Payne, Katelyn Helbig, Katherine Radtke, Kelly Nugent, Kimberly M Cremer, Kirsten Strom, Tim M Bird, Lynne M Sinnema, Margje Bitner-Glindzicz, Maria van Dooren, Marieke F Alders, Marielle Koopmans, Marije Brick, Lauren Kozenko, Mariya Harline, Megan L Klaassens, Merel Steinraths, Michelle Cooper, Nicola S Edery, Patrick Yap, Patrick Terhal, Paulien A van der Spek, Peter J Lakeman, Phillis Taylor, Rachel L Littlejohn, Rebecca O Pfundt, Rolph Mercimek-Andrews, Saadet Stegmann, Alexander P A Kant, Sarina G McLean, Scott Joss, Shelagh Swagemakers, Sigrid M A Douzgou, Sofia Wall, Steven A Küry, Sébastien Calpena, Eduardo Koelling, Nils McGowan, Simon J Twigg, Stephen R F Mathijssen, Irene M J Nellaker, Christoffer Brunner, Han G Wilkie, Andrew O M Producer: 20181211 In: American journal of human genetics vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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