-
1دورية أكاديمية
المؤلفون: Dario E. Elias, Maria R. Santos, Hebe Campaña, Fernando A. Poletta, Silvina L. Heisecke, Juan A. Gili, Julia Ratowiecki, Viviana R. Cosentino, Rocio Uranga, Diana Rojas Málaga, Alice Brinckmann Oliveira Netto, Ana Carolina Brusius-Facchin, César Saleme, Mónica Rittler, Hugo B. Krupitzki, Jorge S. Lopez Camelo, Lucas G. Gimenez
المصدر: Genetics and Molecular Biology, Vol 46, Iss 4 (2024)
مصطلحات موضوعية: Preterm birth, gene-environment interaction, neighbourhood characteristics, toxoplasmosis, Bayesian approach, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572023000700102&tlng=enTest; https://doaj.org/toc/1678-4685Test
-
2دورية أكاديمية
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
-
3مؤتمر
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)
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 -
4
المؤلفون: Dario E. Elias, Maria R. Santos, Hebe Campaña, Fernando A. Poletta, Silvina L. Heisecke, Juan A. Gili, Julia Ratowiecki, Viviana Cosentino, Rocio Uranga, Diana Rojas Málaga, Alice Brinckmann Oliveira Netto, Ana Carolina Brusius-Facchin, César Saleme, Mónica Rittler, Hugo B. Krupitzki, Jorge S. Lopez Camelo, Lucas G. Gimenez
المصدر: J Community Genet
مصطلحات موضوعية: Epidemiology, Public Health, Environmental and Occupational Health, Original Article, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae8f8dc23a55974f934d718a368bed40Test
https://europepmc.org/articles/PMC9681956Test/ -
5دورية أكاديمية
المؤلفون: Fernando A Poletta, Monica Rittler, Cesar Saleme, Hebe Campaña, Juan A Gili, Mariela S Pawluk, Lucas G Gimenez, Viviana R Cosentino, Eduardo E Castilla, Jorge S López-Camelo
المصدر: PLoS ONE, Vol 13, Iss 3, p e0193127 (2018)
العلاقة: http://europepmc.org/articles/PMC5851584?pdf=renderTest; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/d431dea05ad544fc8879dfa60d285947Test
الإتاحة: https://doi.org/10.1371/journal.pone.0193127Test
https://doaj.org/article/d431dea05ad544fc8879dfa60d285947Test -
6
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)
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 -
7دورية أكاديمية
المؤلفون: Jinsil Kim, Mitchell M. Pitlick, Paul J. Christine, Amanda R. Schaefer, Cesar Saleme, Belén Comas, Viviana Cosentino, Enrique Gadow, Jeffrey C. Murray
المصدر: The Scientific World Journal, Vol 2013 (2013)
مصطلحات موضوعية: Technology, Medicine, Science
العلاقة: http://dx.doi.org/10.1155/2013/678156Test; https://doaj.org/toc/1537-744XTest; https://doaj.org/article/4da63e779a994d909ce8a773c9d85f07Test
الإتاحة: https://doi.org/10.1155/2013/678156Test
https://doaj.org/article/4da63e779a994d909ce8a773c9d85f07Test -
8
المؤلفون: Maria del V. Frontini, Maria I. Acosta, Raul A. Asial, María del Carmen Boente, Silvia Barrionuevo, César Saleme
المصدر: Pediatric dermatology. 12(3)
مصطلحات موضوعية: Male, Ectodermal dysplasia, Pathology, medicine.medical_specialty, business.industry, Placenta, Infant, Newborn, Dermatology, Aplasia, Anatomy, medicine.disease, Trunk, Aplasia cutis congenita, Lesion, medicine.anatomical_structure, Ectodermal Dysplasia, Pediatrics, Perinatology and Child Health, medicine, Humans, medicine.symptom, Fetus papyraceus, Family history, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb674ec99b4fd57622973f8c7b85948fTest
https://pubmed.ncbi.nlm.nih.gov/7501552Test