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1دورية أكاديمية
المؤلفون: Estephania Candelo, Ana Maria Sanz, Diana Ramirez-Montaño, Lorena Diaz-Ordoñez, Ana Maria Granados, Fernando Rosso, Julian Nevado, Pablo Lapunzina, Harry Pachajoa
المصدر: Frontiers in Genetics, Vol 12 (2021)
مصطلحات موضوعية: Colombia, microcephaly, whole-exome sequencing, Zika virus, vertical transmission, brain abnormalities, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.530028/fullTest; https://doaj.org/toc/1664-8021Test
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2دورية أكاديمية
المؤلفون: Jacobo Limeres, Candela Serrano, Joaquin Manuel De Nova, Javier Silvestre-Rangil, Guillermo Machuca, Isabel Maura, Jose Cruz Ruiz-Villandiego, Pedro Diz, Raquel Blanco-Lago, Julian Nevado, Marcio Diniz-Freitas
المصدر: Journal of Clinical Medicine, Vol 9, Iss 11, p 3556 (2020)
مصطلحات موضوعية: Wolf-Hirschhorn syndrome, 4p-, stomatognathic diseases, oral manifestations, genotype, Medicine
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Hannah Verdin, Barbara D'haene, Diane Beysen, Yana Novikova, Björn Menten, Tom Sante, Pablo Lapunzina, Julian Nevado, Claudia M B Carvalho, James R Lupski, Elfride De Baere
المصدر: PLoS Genetics, Vol 9, Iss 3, p e1003358 (2013)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC3597517?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test
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4دورية أكاديمية
المؤلفون: Patricia Pascual, Jair Tenorio-Castano, Cyril Mignot, Alexandra Afenjar, Pedro Arias, Natalia Gallego-Zazo, Alejandro Parra, Lucia Miranda, Mario Cazalla, Cristina Silván, Delphine Heron, Boris Keren, Ioana Popa, María Palomares, Emi Rikeros, Feliciano J. Ramos, Berta Almoguera, Carmen Ayuso, Saoud Tahsin Swafiri, Ana Isabel Sánchez Barbero, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Manuela Morleo, Vicenzo Nigro, Stefano D’Arrigo, Claudia Ciaccio, Carmen Martin Mesa, Beatriz Paumard, Gema Guillen, Ana Teresa Serrano Anton, Marta Domínguez Jimenez, Veronica Seidel, Julia Suárez, Valerie Cormier-Daire, The SOGRI Consortium, Julián Nevado, Pablo Lapunzina
المصدر: Genes; Volume 14; Issue 9; Pages: 1664
مصطلحات موضوعية: CHD3, Snijders Blok–Campeau syndrome, overgrowth, neurodevelopmental disorders, SNIBCPS
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14091664Test
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5دورية أكاديمية
المؤلفون: Cristina Bel-Fenellós, Chantal Biencinto-López, Belén Sáenz-Rico, Adolfo Hernández, Ana Karen Sandoval-Talamantes, Jair Tenorio-Castaño, Pablo Lapunzina, Julián Nevado
المصدر: Genes; Volume 14; Issue 8; Pages: 1628
مصطلحات موضوعية: behavioral assessment, cognitive assessment, Cri du Chat syndrome, 5p- Syndrome, SNP-arrays
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14081628Test
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6دورية أكاديمية
المؤلفون: Alejandro Parra, Rachel Rabin, John Pappas, Patricia Pascual, Mario Cazalla, Pedro Arias, Natalia Gallego-Zazo, Alfredo Santana, Ignacio Arroyo, Mercè Artigas, Harry Pachajoa, Yasemin Alanay, Ozlem Akgun-Dogan, Lyse Ruaud, Nathalie Couque, Jonathan Levy, Gloria Liliana Porras-Hurtado, Fernando Santos-Simarro, Maria Juliana Ballesta-Martinez, Encarna Guillén-Navarro, Hugo Muñoz-Hernández, Julián Nevado, Spanish OverGrowth Registry Initiative Spanish OverGrowth Registry Initiative, Jair Tenorio-Castano, Pablo Lapunzina
المصدر: Genes; Volume 14; Issue 6; Pages: 1179
مصطلحات موضوعية: SETD2, Luscan–Lumish syndrome, Rabin–Pappas syndrome, intellectual developmental disorder, autosomal dominant 70, overgrowth, intellectual disability, autism spectrum disorder, MRD70, LLS, RAPAS
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14061179Test
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7دورية 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; Volume 14; Issue 4; Pages: 820
مصطلحات موضوعية: autistic spectrum disorder, copy number variations, microarray, tertiary hospital
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14040820Test
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8دورية أكاديمية
المؤلفون: Ramón Peces, Carlos Peces, Laura Espinosa, Rocío Mena, Carolina Blanco, Jair Tenorio-Castaño, Pablo Lapunzina, Julián Nevado
المصدر: Genes, Vol 14, Iss 10, p 1878 (2023)
مصطلحات موضوعية: familial hyperkalemic hypertension, Gordon syndrome, pseudohypoaldosteronism type II, metabolic acidosis, WNK1 missense variant, Genetics, QH426-470
العلاقة: https://www.mdpi.com/2073-4425/14/10/1878Test; https://doaj.org/toc/2073-4425Test; https://doaj.org/article/f30609c7acc84d48babdf69382436931Test
الإتاحة: https://doi.org/10.3390/genes14101878Test
https://doaj.org/article/f30609c7acc84d48babdf69382436931Test -
9مؤتمر
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 -
10دورية أكاديمية
المؤلفون: Pérez, Elisabet Matas, Torbay, Andrea González, López, Mario Solis, de la Cámara, Ricardo Cuesta Martín, Jiménez, Carmen Rodríguez, Álvarez, Mari Ángeles Mori, Blanco, Julián Nevado, Gianelli, Carla, Hijón, Carmen Cámara, Granados, Eduardo López, Pena, Rebeca Rodríguez, del Pozo Mate, Ángela, García‐Morato, María Bravo
المصدر: European Journal of Clinical Investigation ; volume 54, issue 6 ; ISSN 0014-2972 1365-2362