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1 Ergebnisse
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De Novo and Inherited Loss-of-Function Variants in TLK2: Cl..:
Reijnders, Margot R.F.
;
Miller, Kerry A.
;
Alvi, Mohsan
...
The American Journal of Human Genetics. 102 (2018) 6 - p. 1195-1203 , 2018
Link:
https://doi.org/10.1016/j.ajhg.2018.04.014
RT Journal T1
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ajhg.2018.04.014&Exemplar=1&LAN=DE A1 Reijnders, Margot R.F. A1 Miller, Kerry A. A1 Alvi, Mohsan A1 Goos, Jacqueline A.C. A1 Lees, Melissa M. A1 de Burca, Anna A1 Henderson, Alex A1 Kraus, Alison A1 Mikat, Barbara A1 de Vries, Bert B.A. A1 Isidor, Bertrand A1 Kerr, Bronwyn A1 Marcelis, Carlo A1 Schluth-Bolard, Caroline A1 Deshpande, Charu A1 Ruivenkamp, Claudia A.L. A1 Wieczorek, Dagmar A1 Baralle, Diana A1 Blair, Edward M. A1 Engels, Hartmut A1 Lüdecke, Hermann-Josef A1 Eason, Jacqueline A1 Santen, Gijs W.E. A1 Clayton-Smith, Jill A1 Chandler, Kate A1 Tatton-Brown, Katrina A1 Payne, Katelyn A1 Helbig, Katherine A1 Radtke, Kelly A1 Nugent, Kimberly M. PB Elsevier BV YR 2018 SN 0002-9297 JF The American Journal of Human Genetics VO 102 IS 6 SP 1195 OP 1203 LK http://dx.doi.org/https://doi.org/10.1016/j.ajhg.2018.04.014 DO https://doi.org/10.1016/j.ajhg.2018.04.014 SF ELIB - SuUB Bremen
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