Zobrazeno 1 - 10
of 487
pro vyhledávání: '"González-Meneses A"'
Autor:
Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group, Mena Rocío, Lleguer Roser, Fernández-Montaño Victoria, Martín Rubén, Fernández Blanca, García-Santiago Fé, Gómez del Pozo Victoria, Peña Carolina, Alhambra Norma, García Carlos, Rodríguez Juan Ramón, Martínez-Bermejo Antonio, Málaga Ignacio, Martínez-Monseny Antonio Federico, Armstrong Judith, Anticona Jennifer, Hernando-Davalillo Cristina, San Martí Adrián Alcalá, Martorell Loreto, Yubero Delia, Nunes Tania, Callaghan Mar O´, Alonso Xenia, Ramos Federico, López Jesús Casas, López-González Vanesa, M Juliana Ballesta, Armengol Lluís, González-Meneses Antonio, Borrego Salud, Roselló Mónica, Suela Javier, Pérez-Granero Ángeles, Rodríguez-Revenga Laia
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Phelan-McDermid syndrome (PMS, OMIM# 606232) results from either different rearrangements at the distal region of the long arm of chromosome 22 (22q13.3) or pathogenic sequence variants in the SHANK3 gene. SHANK3 codes for a structural protein that p
Externí odkaz:
https://doaj.org/article/45e2ed9b52f940b0bd31664eea90cf57
Autor:
María Heredia-Torrejón, Raúl Montañez, Antonio González-Meneses, Atilano Carcavilla, Miguel A. Medina, Alfonso M. Lechuga-Sancho
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Abstract The diagnostic odysseys for rare disease patients are getting shorter as next-generation sequencing becomes more widespread. However, the complex genetic diversity and factors influencing expressivity continue to challenge accurate diagnosis
Externí odkaz:
https://doaj.org/article/e0e505386b544a9fa9b07c54af507670
Autor:
González-Meneses, Juan, Marin, Ivan
In this paper we introduce a class of `parabolic' subgroups for the generalized braid group associated to an arbitrary irreducible complex reflection group, which maps onto the collection of parabolic subgroups of the reflection group. Except for one
Externí odkaz:
http://arxiv.org/abs/2208.11938
Autor:
Juliana Ribeiro-Constante, Alba Tristán-Noguero, Fernando Francisco Martínez Calvo, Salvador Ibañez-Mico, José Luis Peña Segura, José Miguel Ramos-Fernández, María del Carmen Moyano Chicano, Rafael Camino León, Víctor Soto Insuga, Elena González Alguacil, Carlos Valera Dávila, Alberto Fernández-Jaén, Laura Plans, Ana Camacho, Nuria Visa-Reñé, María del Pilar Martin-Tamayo Blázquez, Fernando Paredes-Carmona, Itxaso Marti-Carrera, Aránzazu Hernández-Fabián, Meritxell Tomas Davi, Merce Casadesus Sanchez, Laura Cuesta Herraiz, Patricia Fuentes Pita, Teresa Bermejo Gonzalez, Mar O'Callaghan, Federico Felipe Iglesias Santa Polonia, María Rosario Cazorla, María Teresa Ferrando Lucas, Antonio González-Meneses, Júlia Sala-Coromina, Alfons Macaya, Amaia Lasa-Aranzasti, Anna Ma Cueto-González, Francisca Valera Párraga, Jaume Campistol Plana, Mercedes Serrano, Xenia Alonso, Diego Del Castillo-Berges, Marc Schwartz-Palleja, Sofía Illescas, Alia Ramírez Camacho, Oscar Sans Capdevila, Angeles García-Cazorla, Àlex Bayés, Itziar Alonso-Colmenero
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 12 (2024)
SYNGAP1 haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by a spectrum of neurodevelopmental symptoms. Concerning interictal epileptiform discharges (IEDs) in electroencephalo
Externí odkaz:
https://doaj.org/article/166caca1761d48df939f150c72881fb8
Akademický článek
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Autor:
Antiñolo Guillermo, González-Meneses Antonio, Núñez-Torres Rocío, Fernández Raquel M, Borrego Salud
Publikováno v:
BMC Medical Genetics, Vol 11, Iss 1, p 137 (2010)
Abstract Background Hirschsprung disease (HSCR) is a neurocristopathy characterized by the absence of parasympathetic intrinsic ganglion cells in the submucosal and myenteric plexuses along a variable portion of the intestinal tract. In approximately
Externí odkaz:
https://doaj.org/article/b51817bd2cf947798869227b919d174b
We show that, generically, finding the $k$-th root of a braid is very fast. More precisely, we provide an algorithm which, given a braid $x$ on $n$ strands and canonical length $l$, and an integer $k>1$, computes a $k$-th root of $x$, if it exists, o
Externí odkaz:
http://arxiv.org/abs/1909.10962
Publikováno v:
Algebr. Geom. Topol. 21 (2021) 1351-1370
There are two objects naturally associated with a braid $\beta\in B_n$ of pseudo-Anosov type: a (relative) pseudo-Anosov homeomorphism $\varphi_\beta\colon S^2\to S^2$; and the finite volume complete hyperbolic structure on the 3-manifold $M_\beta$ o
Externí odkaz:
http://arxiv.org/abs/1902.05513
Akademický článek
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Akademický článek
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