المؤلفون: Vega-Hanna Lourdes, Sanz-Cuesta Mario, Casas-Alba Didac, Bolasell Mercè, Martorell Loreto, Pías Leticia, Feller Ana Lucia, Antonio Federico Martínez-Monseny, Serrano Mercedes

المصدر: Frontiers in Pediatrics, Vol 11 (2023)

مصطلحات موضوعية: sotos syndrome, phenotype, overgrowth, NSD1, NFIX, APC2, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2023.1184529/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/7332724ab12945a29fee5067a45df651Test

المؤلفون: 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

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: autistic behavior, 22q13 deletion syndrome, Phelan-McDermid syndrome (PMS), SHANK3, subtelomeric deletion syndrome, intellectual disabilities (ID), Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.652454/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/45e2ed9b52f940b0bd31664eea90cf57Test

المؤلفون: Alsina Casanova, Miguel, Monteagudo-Sánchez, Ana, Rodriguez Guerineau, Luciana, Court, Franck, Gazquez Serrano, Isabel, Martorell, Loreto, Rovira Zurriaga, Carlota, Moore, Gudrun E., Ishida, Miho, Castañon, Montserrat, Moliner Calderon, Elisenda, Monk, David, Moreno Hernando, Julio

مصطلحات موضوعية: Displàsia capil·lar alveolar, FOXM1, Metilació, Displasia capilar alveolar, Metilación

الوقت: 61

العلاقة: Human Mutation; 38;6; http://hdl.handle.net/20.500.12328/4034Test; https://dx.doi.org/10.1002/humu.23213Test

الإتاحة: https://doi.org/20.500.12328/4034Test
https://doi.org/10.1002/humu.23213Test
https://hdl.handle.net/20.500.12328/4034Test

المؤلفون: García-Miñaur Sixto, García-Sagredo José M, Soriano-Guillén Leandro, Fontalba Ana, Aleixandre Fernando, Vila-Cots Jaime, Martorell Loreto, Vilalta Ramón, Nieto José, Rica Itxaso, Ariceta Gema, Rey-Cordo Lourdes, Díaz-Grande José M, Bernabeu Ignacio, Gil Marta, Pombo Manuel, Cabanas Paloma, Barreiro Jesús, Castro-Feijóo Lidia, Morey Marcos, Rodríguez Berta, Juaristi Saioa, García-Pardos Carmen, Martínez-Peinado Antonio, Millán José M, Medeira Ana, Moldovan Oana, Fernandez Angeles, Loidi Lourdes

المصدر: BMC Medical Genetics, Vol 12, Iss 1, p 116 (2011)

مصطلحات موضوعية: Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.biomedcentral.com/1471-2350/12/116Test; https://doaj.org/toc/1471-2350Test

الوصول الحر: https://doaj.org/article/ac71c3cc4a06460a9ff4435700414d83Test

المؤلفون: Wissinger, Bernd, Baumann, Britta, Buena-Atienza, Elena, Ravesh, Zeinab, Cideciyan, Artur V., Stingl, Katarina, Audo, Isabelle, Meunier, Isabelle, Bocquet, Beatrice, Traboulsi, Elias I., Hardcastle, Alison J., Gardner, Jessica C., Michaelides, Michel, Branham, Kari E., Rosenberg, Thomas, Andreasson, Sten, Dollfus, Hélène, Birch, David, Vincent, Andrea L., Martorell, Loreto, Mora, Jaume Català, Kellner, Ulrich, Ruther, Klaus, Lorenz, Birgit, Preising, Markus N., Manfredini, Emanuela, Zarate, Yuri A., Vijzelaar, Raymon, Zrenner, Eberhart, Jacobson, Samuel G., Kohl, Susanne

المصدر: Proceedings of the National Academy of Sciences of the United States of America. 119(27)

مصطلحات موضوعية: BCM, gene conversion, human visual pigment genes, locus control region, opsin gene deletion, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics

الوصول الحر: https://lup.lub.lu.se/record/bee138ab-e193-48b1-8cc8-3481367ef539Test
http://dx.doi.org/10.1073/pnas.2115538119Test

المؤلفون: López-Ramos, Maria Goretti, Vinent, Joan, Aarnoutse, Rob, Colbers, Angela, Velasco-Arnaiz, Eneritz, Martorell, Loreto, Falcón Neyra, Lol, Neth, Olaf, Prieto Andrés, Luis, Guillén, Sara, Baquero-Artigao, Fernando, Méndez-Echevarría, Ana, Gómez-Pastrana, David, Jiménez, Ana B., Lahoz, Rebeca, Ramos Amador, José Tomás, Soriano-Arandes, Antoni, Santiago-García, Begoña, Farré, Rosa, Fortuny, Claudia, Soy, Dolors, Noguera-Julián, Antoni

المساهمون: Instituto de Salud Carlos III, Ministerio de Sanidad y Seguridad Social (España), Ministerio de Economía y Competitividad (España), Generalitat de Catalunya, Fundació Mar

مصطلحات موضوعية: Tuberculosis, Acetylation, Infant, Isoniazid, Pharmacokinetics, Transaminases

وصف الملف: application/pdf

العلاقة: Publisher's version; The underlying dataset has been published as supplementary material of the article in the publisher platform at DOI 10.3390/antibiotics12020272; https://doi.org/10.3390/antibiotics12020272Test; Sí; Antibiotics 12(2): 272 (2023); http://hdl.handle.net/10261/333050Test; 2-s2.0-85148897507; https://api.elsevier.com/content/abstract/scopus_id/85148897507Test

الإتاحة: https://doi.org/10.3390/antibiotics12020272Test
http://hdl.handle.net/10261/333050Test
https://api.elsevier.com/content/abstract/scopus_id/85148897507Test

المؤلفون: Amato, Maria Eugenia, Ricart, Silvia, Vicente, Maria Asunción, Martorell, Loreto, Armstrong, Judith, Fernández Isern, Guerau, Mascaro, José Manuel, Balsells, Sol, Alonso, Itziar, Serrano, Mercedes, Ortigoza‐Escobar, Juan Darío

المصدر: Clinical Case Reports ; volume 11, issue 4 ; ISSN 2050-0904 2050-0904

الإتاحة: https://doi.org/10.1002/ccr3.7275Test

المؤلفون: Nou‐Fontanet, Laia, Martí‐Sánchez, Laura, Martorell, Loreto, Casas, Jesús, Ortigoza‐Escobar, Juan Darío

المصدر: Movement Disorders Clinical Practice; Jul2024, Vol. 11 Issue 7, p889-893, 5p

المؤلفون: Estévez-Arias, Berta, Matalonga, Leslie, Martorell, Loreto, Codina, Anna, Ortez, Carlos, Carrera-García, Laura, Expósito-Escudero, Jessica, Yubero, Delia, Hoenicka, Janet, Jou, Cristina, Palau, Francesc, Beltran, Sergi, Lochmüller, Hanns, Töpf, Ana, Nascimento, Andrés, Natera-de Benito, Daniel

المصدر: Journal of Neuromuscular Diseases; 2024, Vol. 11 Issue 3, p647-653, 7p

المؤلفون: Pena-Couso, Laura, Ercibengoa Arana, Maria, Mercadillo, Fátima, Gómez-Sánchez, David, Inglada-Pérez, Lucia, Santos, Maria Lucia S.F., Lanillos, Javier, Gutiérrez-Abad, David, Hernández, Almudena, Carbonell, Pablo, Letón, Rocío, Robledo, Mercedes, Rodriguez-Antona, Cristina, Perea García, José, Urioste, Miguel, Alonso, Miguel Ãngel, Andrés, Raquel, Arévalo, Sara, Arias, Maria del Mar, Balmaña Gelpí, Judith, Beristain, Elena, Blanco Guillermo, Ignacio, Boronat, Mauro, Brunet, Joan, Cózar-León, Victoria, del Campo Casanelles, Miguel, Díaz, Arantza, Gabau, Elisabeth, Barcina, María Jesús, González, Margarita, Guitart, Miriam, Hernán, Imma, Hernández, Héctor Salvador, Hernando, Susana, Lacambra, Carmen, Lasa, Adriana, Lastra, Enrique, Llort, Gemma, del Rosario Marín, Maria, Marrupe, David, Martínez, Francisco, Martínez, Victor, Martorell, Loreto, Orera, Maria, Pedrinaci, Susana, Pérez, Pedro, Pineda, Marta, Plasencia, Ana Maria, Ramon y Cajal, Teresa, Robles, Luis, Rodà , Diana, Rodríguez, Nuria, Rosell Andreo, Jordi, Sáez, Raquel, Salvat, Monica, Sánchez, Antonio, Santana, Alfredo, Soto, Jose Luis, Toll, Agustin, Tuneu, Anna, Vázquez, Carlos

مصطلحات موضوعية: PTEN hamartoma tumor syndrome, Cowden syndrome, PTEN gene, NGS, Exome

وصف الملف: application/pdf

العلاقة: Ministerio de Economía y Competitividad PI14/00459; Ministerio de Economía y Competitividad BES-2015-071383; Orphanet Journal of Rare Diseases; Vol. 17 Núm. 1 (december 2022), p. 85; https://ddd.uab.cat/record/284448Test; urn:10.1186/s13023-021-02079-7; urn:oai:ddd.uab.cat:284448; urn:scopus_id:85126071653; urn:articleid:17501172v17n1p85; urn:pmid:35227301; urn:pmc-uid:8886852; urn:pmcid:PMC8886852; urn:oai:pubmedcentral.nih.gov:8886852; urn:oai:egreta.uab.cat:publications/c2cb51fd-440e-4c45-bfae-83c1c7283b09

الإتاحة: https://ddd.uab.cat/record/284448Test