Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Emma Soengas Gonda"'
Autor:
Ana Arteche‐López, Almudena Avila‐Fernandez, Alejandra Damian, Emma Soengas‐Gonda, Rubén Pérez de la Fuente, Patricia Ramos Gómez, Jesús Gallego Merlo, Laura Horcajada Burgos, Carlos Cemillán Fernández, Jose Miguel Lezana Rosales, Juan Francisco González Martínez, Juan Francisco Quesada‐Espinosa, Marta Corton, Maria Paz Guerrero‐Molina
Publikováno v:
Clinical Genetics. 103:236-241
The biallelic pathogenic repeat (AAGGG)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c4e13b922bf2a0416589dcc09c8c7e6
https://doi.org/10.1111/cge.14249
https://doi.org/10.1111/cge.14249
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:
Ana Arteche-López, María Teresa Sánchez Calvín, Rubén Pérez de la Fuente, Juan Francisco Quesada Espinosa, Carmen Palma Milla, Marta Moreno Garcia, Maria Isabel Alvarez-Mora, Diego Tuñon Le Poultel, José Miguel Lezana Rosales, Emma Soengas Gonda, María José Gómez Rodríguez, Irene Gómez Manjón
Publikováno v:
Revista de Medicina de Laboratorio.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f020dcd4fa273b8e590ad7047cad8177
https://doi.org/10.20960/revmedlab.00077
https://doi.org/10.20960/revmedlab.00077