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: Daniel Maciera, Damian Navarro, Liliana Ensisa, Natalia Espinola, Gabriela Obregón

المصدر: De Prácticas y Discursos, Vol 8, Iss 11 (2019)

مصطلحات موضوعية: adolescente, comportamiento, políticas públicas, Social Sciences

وصف الملف: electronic resource

العلاقة: https://revistas.unne.edu.ar/index.php/dpd/article/view/3823Test; https://doaj.org/toc/2250-6942Test

الوصول الحر: https://doaj.org/article/5cabf9535d5841baaaed8a8ba54fdebeTest

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

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, autistic behavior, 22q13 deletion syndrome, Phelan-McDermid syndrome (PMS), SHANK3, subtelomeric deletion syndrome, intellectual disabilities (ID)

العلاقة: https://figshare.com/articles/presentation/Presentation3_Variability_in_Phelan-McDermid_Syndrome_in_a_Cohort_of_210_Individuals_PPTX/19589446Test

الإتاحة: https://doi.org/10.3389/fgene.2022.652454.s003Test
https://figshare.com/articles/presentation/Presentation3_Variability_in_Phelan-McDermid_Syndrome_in_a_Cohort_of_210_Individuals_PPTX/19589446Test

المؤلفون: Silvia Caino, Marisa Angelica Cubilla, Romina Alba, María Gabriela Obregón, Virginia Fano, Abel Gómez, Lorena Zecchini, Pablo Lapunzina, Miriam Aza-Carmona, Karen E. Heath, Carla Gabriela Asteggiano

المصدر: Genes; Volume 13; Issue 11; Pages: 2063

مصطلحات موضوعية: osteochondroma, O-glycosylation disorders, multiple osteochondromatosis, multiple exostosis, EXT1/EXT2-CDG

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13112063Test

الإتاحة: https://doi.org/10.3390/genes13112063Test

المؤلفون: Boris Rebolledo-Jaramillo, Maria Gabriela Obregon, Victoria Huckstadt, Abel Gomez, Gabriela M. Repetto

المصدر: Genes; Volume 12; Issue 1; Pages: 92

مصطلحات موضوعية: 22q11.2 deletion syndrome, mtDNA heteroplasmy, congenital defects

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12010092Test

الإتاحة: https://doi.org/10.3390/genes12010092Test

المؤلفون: Mariana Amina Loos, Gimena Gomez, Lía Mayorga, Roberto Horacio Caraballo, Hernán Diego Eiroa, María Gabriela Obregon, Carlos Rugilo, Fabiana Lubieniecki, Ana Lía Taratuto, María Saccoliti, Cristina Noemi Alonso, Hilda Verónica Aráoz

المصدر: Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100733- (2021)

مصطلحات موضوعية: Mitochondrial diseases, MELAS, Leigh syndrome, Molecular diagnosis, Pediatrics, Mitochondrial DNA, Medicine (General), R5-920, Biology (General), QH301-705.5

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426921000276Test; https://doaj.org/toc/2214-4269Test; https://doaj.org/article/efe1e50ce5564dbd926ce775ef3d39e6Test

الإتاحة: https://doi.org/10.1016/j.ymgmr.2021.100733Test
https://doaj.org/article/efe1e50ce5564dbd926ce775ef3d39e6Test

المؤلفون: Lessly Palacios, Gabriela Obregon, Jhonny Valverde Flores, Carlos Olivera, Elmer Benites

المصدر: Chemical Engineering Transactions, Vol 80 (2020)

مصطلحات موضوعية: Chemical engineering, TP155-156, Computer engineering. Computer hardware, TK7885-7895

العلاقة: https://www.cetjournal.it/index.php/cet/article/view/10925Test; https://doaj.org/toc/2283-9216Test; https://doaj.org/article/45523c0d26684d2790e35297839ae046Test

الإتاحة: https://doi.org/10.3303/CET2080046Test
https://doaj.org/article/45523c0d26684d2790e35297839ae046Test

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

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, autistic behavior, 22q13 deletion syndrome, Phelan-McDermid syndrome (PMS), SHANK3, subtelomeric deletion syndrome, intellectual disabilities (ID)

العلاقة: https://figshare.com/articles/dataset/Table1_Variability_in_Phelan-McDermid_Syndrome_in_a_Cohort_of_210_Individuals_XLSX/19589461Test

الإتاحة: https://doi.org/10.3389/fgene.2022.652454.s008Test
https://figshare.com/articles/dataset/Table1_Variability_in_Phelan-McDermid_Syndrome_in_a_Cohort_of_210_Individuals_XLSX/19589461Test

المؤلفون: Julieta Dominguez-Ortiz, Rosa M. Álvarez-Gómez, Rogelio Montiel-Manríquez, Alberto Cedro-Tanda, Nicolás Alcaraz, Clementina Castro-Hernández, Luis Bautista-Hinojosa, Laura Contreras-Espinosa, Leda Torres-Maldonado, Verónica Fragoso-Ontiveros, Yuliana Sánchez-Contreras, Rodrigo González-Barrios, Marcela Angélica De la Fuente-Hernández, María de la Luz Mejía-Aguayo, Ulises Juárez-Figueroa, Alejandra Padua-Bracho, Rodrigo Sosa-León, Gabriela Obregon-Serrano, Silvia Vidal-Millán, Paulina María Núñez-Martínez, Abraham Pedroza-Torres, Sergio Nicasio-Arzeta, Alfredo Rodríguez, Fernando Luna, Fernanda Cisneros-Soberanis, Sara Frías, Cristian Arriaga-Canon, Luis A. Herrera-Montalvo

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 12, p 6773 (2024)

مصطلحات موضوعية: hereditary breast and ovarian cancer, BRCA1, pathogenic variants, founder mutation, BRCA1Δ9–12, allele differential expression, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/25/12/6773Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/63f3b50e5ad24d0bb3e2d341782421eaTest

المؤلفون: Gabriela Obregón Chiu, Paúl Camino Flores, Daniel Alejandro Kaneku Alakawa

المساهمون: Casavilca Maldonado, Edmundo Rafael

المصدر: Universidad San Ignacio de Loyola
Repositorio Institucional-USIL
USIL-Institucional
instacron:USIL

مصطلحات موضوعية: Administración de empresas, Planificación estratégica, Industria eléctrica, Recursos energéticos, purl.org/pe-repo/ocde/ford#5.02.04 [https]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f057aed3f2fe511f7f908b55ae9d5cdTest
https://doi.org/10.20511/usil.thesis/9164Test