Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Olalla Sierra Tomillo"'
Autor:
Emma Soengas-Gonda, Rubén Pérez de la Fuente, Ana Arteche-López, María de los Ángeles Gómez-Cano, Juan Francisco Quesada-Espinosa, Carmen Palma Milla, José Miguel Lezana Rosales, Sonia Mayo de Andrés, María Teresa Sánchez-Calvín, María José Gómez-Rodríguez, Olalla Sierra Tomillo, Alexandra Juarez Rufian, Patricia Ramos Gomez, Clara Herrero-Forte, Maria Fenollar-Cortés, Carmen Cotarelo-Pérez, Adrián García Ron, Olga Pérez Rodríguez, Raluca Oancea-Ionescu, Marta Moreno-García
Publikováno v:
Neuropediatrics.
Alazami syndrome is a rare disorder with an autosomal recessive inheritance caused by pathogenic biallelic variants in the LARP7 gene. Clinically, it is mainly characterized by short stature, intellectual disability, and dysmorphic facial features. H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a1b289f1210577d267a2c7359c7d26a
https://pubmed.ncbi.nlm.nih.gov/36126956
https://pubmed.ncbi.nlm.nih.gov/36126956
Autor:
Irene Hidalgo Mayoral, Antonio Martínez-Salio, Sara Llamas-Velasco, Irene Gómez-Majón, Ana Arteche-López, Juan Francisco Quesada-Espinosa, Carmen Palma Milla, Jose Miguel Lezana Rosales, Rubén Pérez de la Fuente, Alexandra Juárez Rufián, Olalla Sierra Tomillo, Maria Teresa Sánchez Calvín, Maria José Gómez Rodríguez, Patricia Ramos Gómez, Alberto Villarejo-Galende, Jaime Díaz-Guzmán, Maria Ángeles Ortega-Casarrubios, Patricia Calleja-Castaño, Marta Moreno-García
Publikováno v:
European journal of medical genetics. 65(8)
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is an autosomal recessive vascular disorder caused by biallellic variants in HTRA1. Recently, it has been reported that several heterozygous mutatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec6a1269ad393a3e1b5f5bfd100822ad
https://pubmed.ncbi.nlm.nih.gov/35705147
https://pubmed.ncbi.nlm.nih.gov/35705147
Autor:
Ana María Camacho, Olalla Sierra Tomillo, Belén Gil-Fournier, Rogelio Simón, Alejandro Segura-Tudela, Juan Francisco Quesada-Espinosa, Maria Isabel Arranz Cano, Arancha Díaz de Bustamante, José Miguel Lezana Rosales, Pablo Morales-Pérez, Noemí Núñez, Rubén Pérez de la Fuente, Soraya Ramiro León, María Teresa Darnaude, Maria Isabel Alvarez-Mora, María José Gómez Rodríguez, Rebeca Villares Alonso, Carmen Palma Milla, Patricia Ramos Gómez, M. Moreno-García, Alexandra Juárez Rufián, Ana Arteche-López, Irene Hidalgo Mayoral, Irene Gómez-Manjón, María Teresa Sánchez Calvín
Publikováno v:
Genes, Vol 12, Iss 560, p 560 (2021)
Genes
Volume 12
Issue 4
Genes
Volume 12
Issue 4
Autism spectrum disorder (ASD) is a prevalent and extremely heterogeneous neurodevelopmental disorder (NDD) with a strong genetic component. In recent years, the clinical relevance of de novo mutations to the aetiology of ASD has been demonstrated. C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92756aa87cedeef077669e06ab0e6b63
https://www.mdpi.com/2073-4425/12/4/560
https://www.mdpi.com/2073-4425/12/4/560