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De Novo and Inherited Loss-of-Function Variants in TLK2: Cl..:

Reijnders, M.R.F. (Margot R.F.) ; Miller, K.A. (Kerry A.) ; Alvi, M. (Mohsan)...
http://repub.eur.nl/pub/107127. , 2018

RT Journal
T1 <Title>De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftunivrotterdam:oai:repub.eur.nl:107127&Exemplar=1&LAN=DE
				
A1 Reijnders, M.R.F. (Margot R.F.)
A1 Miller, K.A. (Kerry A.)
A1 Alvi, M. (Mohsan)
A1 Goos, J.A.C. (Jacqueline)
A1 Lees, M.M. (Melissa)
A1 de Burca, A. (Anna)
A1 Henderson, A. (Alex)
A1 Kraus, A. (Alison)
A1 Mikat, B. (Barbara)
A1 Vries, B. (Boukje) de
A1 Isidor, B. (Bertrand)
A1 Kerr, B. (Bronwyn)
A1 Marcelis, C.L.M. (Carlo)
A1 Schluth-Bolard, C. (Caroline)
A1 Deshpande, C. (Charu)
A1 Ruivenkamp, C.A. (Claudia)
A1 Wieczorek, D. (Dagmar)
A1 Baralle, D. (Diana)
A1 Blair, E.M. (Ed)
A1 Engels, H. (Hartmut)
A1 Lüdecke, H.-J. (Hermann-Josef)
A1 Eason, J. (Jacqueline)
A1 Santen, G.W.E. (Gijs)
A1 Clayton-Smith, J
A1 Chandler, K. (Kate)
A1 Tatton-Brown, K. (Katrina)
A1 Payne, K. (Katelyn)
A1 Helbig, K. (Katherine)
A1 Radtke, K. (Kelly)
A1 Nugent, K.M. (Kimberly M.)
A1 Cremer, K. (Kirsten)
A1 Strom, T.M. (Tim)
A1 Bird, L.M. (Lynne)
A1 Sinnema, M. (Margje)
A1 Bitner-Glindzicz, M. (M.)
A1 Dooren, M.F. (Marieke) van
A1 Alders, M. (Mariëlle)
A1 Koopmans, M. (Marije)
A1 Brick, L. (Lauren)
A1 Kozenko, M. (Mariya)
A1 Harline, M.L. (Megan L.)
A1 Klaassens, M. (Merel)
A1 Steinraths, M. (Michelle)
A1 Cooper, N. (Nicola)
A1 Edery, P. (Patrick)
A1 Yap, P. (Patrick)
A1 Terhal, P. (Paulien)
A1 van der Spek, P.J. (Peter J.)
A1 Lakeman, P. (Phillis)
A1 Taylor, R.L. (Rachel L.)
A1 Littlejohn, R.O. (Rebecca Okashah)
A1 Pfundt, R. (Rolph)
A1 Mercimek-Andrews, S. (Saadet)
A1 Stegmann, A.P.A. (Alexander P.A.)
A1 Kant, S.G. (Sarina)
A1 McLean, S. (Scott)
A1 Joss, S. (Shelagh)
A1 Swagemakers, S.M.A. (Sigrid)
A1 Douzgou, S. (Sofia)
A1 Wall, S.A. (Steven)
A1 Küry, S. (Sébastien)
A1 Calpena, E. (Eduardo)
A1 Koelling, N. (Nils)
A1 McGowan, S.J. (Simon)
A1 Twigg, S.R.F. (Stephen)
A1 Mathijssen, I.M.J. (Irene M.J.)
A1 Nellaker, C. (Christoffer)
A1 Brunner, H.G
A1 Wilkie, A.O.M. (Andrew)
YR 2018
K1 facial averaging
K1 haploinsufficiency
K1 intellectual disability
K1 kinase
K1 Tousled-like
JF http://repub.eur.nl/pub/107127
LK http://repub.eur.nl/pub/107127
DO http://repub.eur.nl/pub/107127
SF ELIB - SuUB Bremen

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