Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Carmen Gomez Lado"'
Autor:
Elena Martinez-Cayuelas, Fiona Blanco-Kelly, Fermina Lopez-Grondona, Saoud Tahsin Swafiri, Rosario Lopez-Rodriguez, Rebeca Losada-Del Pozo, Ignacio Mahillo-Fernandez, Beatriz Moreno, Maria Rodrigo-Moreno, Didac Casas-Alba, Aitor Lopez-Gonzalez, Sixto García-Miñaúr, Maria Ángeles Mori, Marta Pacio-Minguez, Emi Rikeros-Orozco, Fernando Santos-Simarro, Jaime Cruz-Rojo, Juan Francisco Quesada-Espinosa, Maria Teresa Sanchez-Calvin, Jaime Sanchez-del Pozo, Raquel Bernado Fonz, Maria Isidoro-Garcia, Irene Ruiz-Ayucar, Maria Isabel Alvarez-Mora, Raquel Blanco-Lago, Begoña De Azua, Jesus Eiris, Juan Jose Garcia-Peñas, Belen Gil-Fournier, Carmen Gomez-Lado, Nadia Irazabal, Vanessa Lopez-Gonzalez, Irene Madrigal, Ignacio Malaga, Beatriz Martinez-Menendez, Soraya Ramiro-Leon, Maria Garcia-Hoyos, Pablo Prieto-Matos, Javier Lopez-Pison, Sergio Aguilera-Albesa, Sara Alvarez, Alberto Fernández-Jaén, Isabel Llano-Rivas, Blanca Gener-Querol, Carmen Ayuso, Ana Arteche-Lopez, Maria Palomares-Bralo, Anna Cueto-González, Irene Valenzuela, Antonio Martinez-Monseny, Isabel Lorda-Sanchez, Berta Almoguera
SUMMARYBackgroundKBG syndrome is a highly variable neurodevelopmental disorder and clinical diagnostic criteria have changed as new patients have been published. Both loss-of-function sequence variants and large deletions (CNVs) involving ANKRD11 hav
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::772e2630b0edef5f7aa24d37fceea547
https://doi.org/10.1101/2022.04.11.22271283
https://doi.org/10.1101/2022.04.11.22271283
Autor:
Francisco Sousa Santos, Lidia Castro-Feijoo, Teresa Rego, Francisco Barros Angueira, Paloma Cabanas Rodriguez, Manuel Castro-Gago, Carmen Gomez Lado, Jesus Barreiro Conde
Publikováno v:
HORMONES. 16
Monocarboxylate transporter 8 (MCT8) is an active and specific thyroid hormone transporter into neurons. MCT8 mutations cause an X-linked condition known as Allan-Herndon-Dudley syndrome and are characterized by impaired psychomotor development and t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8349301dd3e6deb1697693eeecaaa006
https://doi.org/10.14310/horm.2002.1733
https://doi.org/10.14310/horm.2002.1733
