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1 Ergebnisse
1
Missense variants in 22 males with intellectual disability ..:
Maia, Nuno
;
Ibarluzea, Nekane
;
Misra-Isrie, Mala
...
American Journal of Medical Genetics. Part a. , 2022
Link:
https://ddd.uab.cat/record/281602
RT Journal T1
Missense variants in 22 males with intellectual disability : From nonspecific symptoms to complete syndromes
UL https://suche.suub.uni-bremen.de/peid=base-ftuabarcelonapb:oai:ddd.uab.cat:281602&Exemplar=1&LAN=DE A1 Maia, Nuno A1 Ibarluzea, Nekane A1 Misra-Isrie, Mala A1 Koboldt, Daniel C A1 Marques, Isabel A1 Soares, Gabriela A1 Santos, Rosário A1 Marcelis, Carlo L. M A1 Keski-Filppula, Riikka A1 Guitart, Míriam A1 Gabau, Elisabeth A1 Lehman, April A1 Hickey, Scott A1 Mori, Mari A1 Terhal, Paulien A1 Valenzuela, Irene A1 Lasa-Aranzasti, Amaia A1 Cueto-González, Anna Mª A1 Chhouk, Brian H A1 Yeh, Rebecca C A1 Neil, Jennifer E A1 Abu-Libde, Bassam A1 Kleefstra, Tjitske A1 Elting, Mariet W A1 Császár, Andrea A1 Kárteszi, Judit A1 Bessenyei, Beáta A1 van Bokhoven, Hans A1 Jorge, Paula A1 van Hagen, Johanna M A1 de Brouwer, Arjan P. M A1 Universitat Autònoma de Barcelona YR 2022 K1 Intellectual disability K1 MED12 K1 Phenotype K1 Genotype JF American Journal of Medical Genetics. Part a LK http://dx.doi.org/https://ddd.uab.cat/record/281602 DO https://ddd.uab.cat/record/281602 SF ELIB - SuUB Bremen
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