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1.
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Am J Med Genet A
; 191(1): 135-143, 2023 Jan.
Article
in English
| MEDLINE | ID: mdl-36271811
2.
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Brain
; 145(9): 3308-3327, 2022 09 14.
Article
in English
| MEDLINE | ID: mdl-35851598
3.
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
Am J Med Genet A
; 170(12): 3069-3082, 2016 12.
Article
in English
| MEDLINE | ID: mdl-27648933
4.
Shprintzen-Goldberg syndrome and aortic dilatation: apropos of 2 new cases.
Rev Esp Cardiol (Engl Ed)
; 74(6): 551-553, 2021 06.
Article
in English, Spanish
| MEDLINE | ID: mdl-33478915
5.
[The genetic bases of neurodevelopmental disorders]. / Bases geneticas de los trastornos del neurodesarrollo.
Rev Neurol
; 56 Suppl 1: S23-34, 2013 Feb 22.
Article
in Spanish
| MEDLINE | ID: mdl-23446721
6.
Síndrome de Shprintzen-Goldberg y dilatación aórtica: a propósito de dos nuevos casos / Shprintzen-Goldberg syndrome and aortic dilatation: apropos of 2 new cases
Rev. esp. cardiol. (Ed. impr.)
; 74(6): 551-553, jun.2021. tab, ilus
Article
in Spanish
| IBECS (Spain) | ID: ibc-232693
7.
Bases genéticas de los trastornos del neurodesarrollo / The genetic bases of neurodevelopmental disorders
Rev. neurol. (Ed. impr.)
; 56(supl.1): S23-S34, 22 feb., 2013. ilus
Article
in Spanish
| IBECS (Spain) | ID: ibc-111682
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