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1دورية أكاديمية
المؤلفون: Ana Karen Sandoval-Talamantes, María Ángeles Mori, Fernando Santos-Simarro, Sixto García-Miñaur, Elena Mansilla, Jair Antonio Tenorio, Carolina Peña, Carmen Adan, María Fernández-Elvira, Inmaculada Rueda, Pablo Lapunzina, Julián Nevado
المصدر: Genes, Vol 14, Iss 4, p 820 (2023)
مصطلحات موضوعية: autistic spectrum disorder, copy number variations, microarray, tertiary hospital, Genetics, QH426-470
وصف الملف: electronic resource
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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
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3دورية أكاديمية
المؤلفون: Julián Nevado, Cristina Bel-Fenellós, Ana Karen Sandoval-Talamantes, Adolfo Hernández, Chantal Biencinto-López, María Luisa Martínez-Fernández, Pilar Barrúz, Fernando Santos-Simarro, María Ángeles Mori-Álvarez, Elena Mansilla, Fé Amalia García-Santiago, Isabel Valcorba, Belén Sáenz-Rico, María Luisa Martínez-Frías, Pablo Lapunzina
المصدر: Frontiers in Genetics, Vol 12 (2021)
مصطلحات موضوعية: 5p-minus syndrome, intellectual disabilities, Cri du chat, subtelomeric deletion, behavior problems, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.645595/fullTest; https://doaj.org/toc/1664-8021Test
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4دورية أكاديمية
المؤلفون: Fe Amalia García‐Santiago, Cristina Martínez‐Payo, Elena Mansilla, Fernando Santos‐Simarro, Miguel Ruiz de Azua Ballesteros, María Ángeles Mori, Eugenia Antolín Alvarado, Yolanda Nieto, Isabel Vallcorba, Jair Tenorio, Julián Nevado, Pablo Lapunzina
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a (2021)
مصطلحات موضوعية: 17q21.31 microdeletion, genomic imbalance, Koolen‐de Vries syndrome, prenatal diagnosis, prenatal ultrasound, ventriculomegaly, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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5دورية أكاديمية
المؤلفون: Julián Nevado, Rafaella Mergener, María Palomares-Bralo, Karen Regina Souza, Elena Vallespín, Rocío Mena, Víctor Martínez-Glez, María Ángeles Mori, Fernando Santos, Sixto García-Miñaur, Fé García-Santiago, Elena Mansilla, Luis Fernández, María Luisa de Torres, Mariluce Riegel, Pablo Lapunzina
المصدر: Genetics and Molecular Biology, Vol 37, Iss 1 suppl 1, Pp 210-219 (2014)
مصطلحات موضوعية: microdeletion, microduplication, chromosome rearrangement, novel deletions, novel duplications, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200007&lng=en&tlng=enTest; https://doaj.org/toc/1678-4685Test
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6دورية أكاديمية
المؤلفون: Jing Pang, José Luis Sánchez-Ramos, Gerald F Watts, María Elena Mansilla-Rodríguez, Manuel J Romero-Jimenez, Alina Rigabert Sánchez-Junco, Eva Nadiedja Gutierrez-Cortizo, Pedro Mata
المصدر: BMJ Open, Vol 13, Iss 3 (2023)
مصطلحات موضوعية: Medicine
العلاقة: https://bmjopen.bmj.com/content/13/3/e065551.fullTest; https://doaj.org/toc/2044-6055Test; https://doaj.org/article/12e9509501dc467286b8954ea4c563e4Test
الإتاحة: https://doi.org/10.1136/bmjopen-2022-065551Test
https://doaj.org/article/12e9509501dc467286b8954ea4c563e4Test -
7مؤتمر
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 -
8مؤتمر
المؤلفون: Julián Nevado (185500), Cristina Bel-Fenellós (11209731), Ana Karen Sandoval-Talamantes (11209734), Adolfo Hernández (11209737), Chantal Biencinto-López (11209740), María Luisa Martínez-Fernández (11209743), Pilar Barrúz (11209746), Fernando Santos-Simarro (11209749), María Ángeles Mori-Álvarez (11209752), Elena Mansilla (11209755), Fé Amalia García-Santiago (11209758), Isabel Valcorba (11209761), Belén Sáenz-Rico (11209764), María Luisa Martínez-Frías (11209767), Pablo Lapunzina (270559)
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, 5p-minus syndrome, intellectual disabilities, Cri du chat, subtelomeric deletion, behavior problems
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9مؤتمر
المؤلفون: Julián Nevado, Cristina Bel-Fenellós, Ana Karen Sandoval-Talamantes, Adolfo Hernández, Chantal Biencinto-López, María Luisa Martínez-Fernández, Pilar Barrúz, Fernando Santos-Simarro, María Ángeles Mori-Álvarez, Elena Mansilla, Fé Amalia García-Santiago, Isabel Valcorba, Belén Sáenz-Rico, María Luisa Martínez-Frías, Pablo Lapunzina
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, 5p-minus syndrome, intellectual disabilities, Cri du chat, subtelomeric deletion, behavior problems
الإتاحة: https://doi.org/10.3389/fgene.2021.645595.s004Test
https://figshare.com/articles/presentation/Presentation_4_Deep_Phenotyping_and_Genetic_Characterization_of_a_Cohort_of_70_Individuals_With_5p_Minus_Syndrome_PPTX/15082275Test -
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المؤلفون: Eva Nadiejda, Gutiérrez-Cortizo, Manuel Jesús, Romero-Jiménez, María Elena Mansilla, Rodríguez, María Angustias Díaz, Santos, Francisco Javier Caballero, Granado, Elena Sánchez, Ruiz-Granados, José Luis Sánchez, Ramos, Pedro, Mata
المصدر: Endocrinología, Diabetes y Nutrición (English ed.). 68:450-457
مصطلحات موضوعية: Hyperlipoproteinemia Type II, Spain, Prevalence, Humans, Mass Screening, Cholesterol, LDL, Coronary Artery Disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f564cf8e7e1f9f979418fda57970e820Test
https://doi.org/10.1016/j.endien.2021.11.017Test