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Browsing Otras Áreas de Investigación de Salud y Ciencias Biomédicas by UNESCO Thesaurus "Deficiencia mental"
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Browsing Otras Áreas de Investigación de Salud y Ciencias Biomédicas by UNESCO Thesaurus "Deficiencia mental"
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Now showing items 1-5 of 5
Bi-Allelic c.1746G>T; p.Leu582= Variants in TUBGCP4 in a Boy with Autism: Clinical Data and Literature Review
Fernández Mayoralas, Daniel Martín;
Albert, Jacobo;
López Martín, Sara
[et al.]
(
2021
)
article
Biallelic ELMO3 mutations and loss of function for DOCK-mediated RAC1 activation result in intellectual disability
Tran, Viviane;
Goyette, Marie-Anne;
Martínez García, Mónica
[et al.]
(
2022
)
article
Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism
Young, Natalie;
Asif, Maria;
Jackson, Matthew
[et al.]
(
2021
)
article
Clinical Delineation of thePACS1-RelatedSyndrome—Report on 19 Patients
Schuurs-Hoeijmakers, Janneke H. M.;
Landsverk, Megan L.;
Foulds, Nicola
[et al.]
(
2016
)
article
Estudios genéticos y neurodesarrollo. De la utilidad al modelo genético
Calleja Pérez, Beatriz;
Fernández Perrone, Ana Laura;
Fernández Mayoralas, Daniel Martín
[et al.]
(
2020
)
article
Now showing items 1-5 of 5
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