Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Ana, Barcia"'
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:
Maria García-Vence, Maria del Pilar Chantada-Vazquez, Ana Sosa-Fajardo, Rebeca Agra, Ana Barcia de la Iglesia, Alfonso Otero-Glez, Miguel García-González, José M. Cameselle-Teijeiro, Cristina Nuñez, Juan J. Bravo, Susana B. Bravo
Publikováno v:
Frontiers in Medicine, Vol 8 (2021)
Most tissue biopsies from patients in hospital environments are formalin-fixed and paraffin-embedded (FFPE) for long-term storage. This fixation process produces a modification in the proteins called “crosslinks”, which improves protein stability
Externí odkaz:
https://doaj.org/article/40aa47ae2b6d4834a238a343da37a9fd
Publikováno v:
American Journal of Medical Genetics Part A. 182:628-631
Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) is an extremely rare autosomal recessive limb abnormality characterized by the fusion of third and fourth fingers. To date, only homozygous missense and frameshift mutations have been r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::500d389ebc68a94bfbfc3078feade7dc
https://doi.org/10.1002/ajmg.a.61480
https://doi.org/10.1002/ajmg.a.61480
Autor:
Maria Garcia Murias, Ana Barcia de la Iglesia, María Lara Besada Cerecedo, Miguel A. Garcia-Gonzalez, Cándido Díaz Rodríguez, Noa Carrera Cachaza, Jorge Amigo Lechuga, Beatriz Sobrino Rey
Publikováno v:
Nefrología. 39:334
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::feaeff08c570a94820fdf078a1a06ea6
https://doi.org/10.1016/j.nefro.2018.12.002
https://doi.org/10.1016/j.nefro.2018.12.002
Publikováno v:
Australasian Journal of Dermatology. 58:e20-e22
Drug-induced lupus erythematosus (DILE) is a less severe variant of systemic lupus erythematosus (SLE) that generally resolves within weeks or months after the withdrawal of the implicated drug. DILE is unusual during childhood, with the most frequen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8d289ca59c229df555c8fd160b264297
https://doi.org/10.1111/ajd.12393
https://doi.org/10.1111/ajd.12393
Publikováno v:
The Australasian journal of dermatology. 58(1)
Drug-induced lupus erythematosus (DILE) is a less severe variant of systemic lupus erythematosus (SLE) that generally resolves within weeks or months after the withdrawal of the implicated drug. DILE is unusual during childhood, with the most frequen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3949634085b854769f4b4f49acd778e7
https://pubmed.ncbi.nlm.nih.gov/26424435
https://pubmed.ncbi.nlm.nih.gov/26424435
Autor:
Gregory G. Germino, Terry Watnick, Susana Bravo, Ana Barcia de la Iglesia, Adrian Cordido Eijo, Candido Diaz, Ana Belen Sanz, Alberto Ortiz, Olaya Lamas-Gonzalez, Miguel A. Garcia-Gonzalez
Publikováno v:
Nephrology Dialysis Transplantation. 31:i95-i95
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a3fa9abd63e3ccb0977e1a2a33fa0a99
https://doi.org/10.1093/ndt/gfw156.15
https://doi.org/10.1093/ndt/gfw156.15
Autor:
Miguel A. Garcia-Gonzalez, Ana Belen Sanz, Patricia Viaño, Ana Barcia de la Iglesia, M Dolores Sanchez-Niño, Adrian Cordido Eijo, Alberto Ortiz, Olaya Lamas-Gonzalez
Publikováno v:
Nephrology Dialysis Transplantation. 31:i23-i23
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a29c636e31b6b2e532e8206bc9d3d798
https://doi.org/10.1093/ndt/gfw126.04
https://doi.org/10.1093/ndt/gfw126.04