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De novo CLTC variants are associated with a variable phenot..:
Nabais Sá, Maria J.
;
Venselaar, Hanka
;
Wiel, Laurens
...
Genetics in Medicine. 22 (2020) 4 - p. 797-802 , 2020
Link:
https://doi.org/10.1038/s41436-019-0703-y
RT Journal T1
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_s41436-019-0703-y&Exemplar=1&LAN=DE A1 Nabais Sá, Maria J. A1 Venselaar, Hanka A1 Wiel, Laurens A1 Trimouille, Aurélien A1 Lasseaux, Eulalie A1 Naudion, Sophie A1 Lacombe, Didier A1 Piton, Amélie A1 Vincent-Delorme, Catherine A1 Zweier, Christiane A1 Reis, André A1 Trollmann, Regina A1 Ruiz, Anna A1 Gabau, Elisabeth A1 Vetro, Annalisa A1 Guerrini, Renzo A1 Bakhtiari, Somayeh A1 Kruer, Michael C. A1 Amor, David J. A1 Cooper, Monica S. A1 Bijlsma, Emilia K. A1 Barakat, Tahsin Stefan A1 van Dooren, Marieke F. A1 van Slegtenhorst, Marjon A1 Pfundt, Rolph A1 Gilissen, Christian A1 Willemsen, Michèl A. A1 de Vries, Bert B.A. A1 de Brouwer, Arjan P.M. A1 Koolen, David A. PB Elsevier BV YR 2020 SN 1098-3600 JF Genetics in Medicine VO 22 IS 4 SP 797 OP 802 LK http://dx.doi.org/https://doi.org/10.1038/s41436-019-0703-y DO https://doi.org/10.1038/s41436-019-0703-y SF ELIB - SuUB Bremen
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