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1دورية أكاديمية
المؤلفون: Paula Leal-Anaya, Tamara N. Kimball, Ana Lucia Yanez-Felix, Moisés Ó. Fiesco-Roa, Benilde García-de Teresa, Angélica Monsiváis, Rocío Juárez-Velázquez, Esther Lieberman, Camilo Villarroel, Emiy Yokoyama, Liliana Fernández-Hernández, Anet Rivera-Osorio, David Sosa, Maria Magdalena Ortiz Sandoval, Norma López-Santiago, Sara Frías, Victoria del Castillo, Alfredo Rodríguez
المصدر: Frontiers in Genetics, Vol 14 (2024)
مصطلحات موضوعية: inherited bone marrow failure syndrome, dyskeratosis congenita, Diamond–Blackfan anemia, Shwachman–Diamond syndrome, thrombocytopenia with absent radii, severe congenital neutropenia, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Silvia Sánchez, Ulises Juárez, Julieta Domínguez, Bertha Molina, Rehotbevely Barrientos, Angélica Martínez-Hernández, Alessandra Carnevale, Patricia Grether-González, Dora Gilda Mayen, Camilo Villarroel, Esther Lieberman, Emiy Yokoyama, Victoria Del Castillo, Leda Torres, Sara Frias
المصدر: Molecular Cytogenetics, Vol 16, Iss 1, Pp 1-14 (2023)
مصطلحات موضوعية: CNV, Mexican population, Hispanic population, 2p11.2, 8p11.22, 14q32.33, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1755-8166
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3دورية أكاديمية
المؤلفون: Emiy Yokoyama, Camilo E. Villarroel, Sinhué Diaz, Victoria Del Castillo, Patricia Pérez-Vera, Consuelo Salas, Samuel Gómez, Reneé Barreda, Bertha Molina, Sara Frias
المصدر: Molecular Cytogenetics, Vol 13, Iss 1, Pp 1-7 (2020)
مصطلحات موضوعية: 1p36 deletion, HES3 gene haploinsufficiency, Duane retraction syndrome, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Daniel Adrian Landero-Huerta, Rosa María Vigueras-Villaseñor, Emiy Yokoyama-Rebollar, Fabiola García-Andrade, Julio César Rojas-Castañeda, Luis Alonso Herrera-Montalvo, José Díaz-Chávez, Isidro Xavier Pérez-Añorve, Elena Aréchaga-Ocampo, Margarita Dolores Chávez-Saldaña
المصدر: Frontiers in Cell and Developmental Biology, Vol 8 (2020)
مصطلحات موضوعية: SNVs, KIT, AR, isolated cryptorchidism, testicular germ cell tumor, Biology (General), QH301-705.5
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Emiy Yokoyama, Victoria Del Castillo, Silvia Sánchez, Sandra Ramos, Bertha Molina, Leda Torres, María José Navarro, Silvia Avila, José Luis Castrillo, Benilde García-De Teresa, Bárbara Asch, Sara Frías
المصدر: Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-8 (2018)
مصطلحات موضوعية: Derivate chromosomes, Translocations, Intellectual disability, Congenital malformations, 5p deletion, 10p15 duplication, Genetics, QH426-470
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Emiy Yokoyama, Dennise Lesley Smith-Pellegrin, Silvia Sánchez, Bertha Molina, Alfredo Rodríguez, Rocío Juárez, Esther Lieberman, Silvia Avila, José Luis Castrillo, Victoria del Castillo, Sara Frías
المصدر: Molecular Cytogenetics, Vol 10, Iss 1, Pp 1-9 (2017)
مصطلحات موضوعية: Hand-foot-genital syndrome, HOXA13, 7p15 deletion, Genetics, QH426-470
وصف الملف: electronic resource
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7دورية أكاديمية
المصدر: Acta Pediátrica de México, Vol 38, Iss 6, Pp 433-441 (2017)
مصطلحات موضوعية: discapacidad intelectual, prevalencia, retraso psicomotor, Medicine, Pediatrics, RJ1-570
وصف الملف: electronic resource
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8
المؤلفون: Jorge Román Corona-Rivera, Juan Carlos Zenteno, Leopoldo Gildardo López-Pérez, Emiy Yokoyama-Rebollar, Camilo E. Villarroel, Tania Barragán-Arévalo, Luis Ángel Montes-Almanza, Luz Consuelo Zepeda-Romero, Guadalupe Elena Morales-Domínguez, Christian Peña-Padilla, Lucina Bobadilla-Morales, Alfredo Corona-Rivera
المصدر: Molecular Syndromology. 14:143-151
مصطلحات موضوعية: Genetics, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f2018172286f286a15a4d0c3e5434d33
https://doi.org/10.1159/000526975 -
9
المؤلفون: Eduardo Carrillo-Tapia, Sara E. Espinosa-Padilla, Daniela Perez-Perez, Maria E. Gonzalez-Serrano, Laura Berron-Ruiz, Francisco J. Espinosa-Rosales, Juan C. Rodriguez-Alba, Fabiola Mújica-Guzman, Emiy Yokoyama-Rebollar, Jose R. García-Flores, Norma E. Herrera-González, Selma Scheffler-Mendoza, Marco A. Yamazaki-Nakashimada, A. Tamara Staines-Boone, Gabriela Lopez-Herrera
المصدر: Genetic testing and molecular biomarkers. 26(4)
مصطلحات موضوعية: Heterozygote, Agammaglobulinemia, X Chromosome Inactivation, Humans, Female, Genetic Diseases, X-Linked, General Medicine, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::975ffdcae63f662239334d5ad15e442b
https://pubmed.ncbi.nlm.nih.gov/35394812 -
10
المؤلفون: Roberto Cruz-Alcívar, P. Navarrete-Meneses, A. Reyes-León, A. González-Del Angel, V. Ulloa-Avilés, Patricia Pérez-Vera, A. I. Pedraza-Meléndez, A. González-Orsuna, S. Gómez-Carmona, Consuelo Salas-Labadía, David E. Cervantes-Barragán, Emiy Yokoyama-Rebollar, Esther Lieberman-Hernández, Adriana Ruiz-Herrera, Carola Durán-McKinster, D. Martínez-Anaya, V. Del Castillo-Ruiz, D. Suárez-Pérez, C. Villarroel-Cortés
المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Keratinocytes, Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Genotype-phenotype correlation, Adolescent, lcsh:Medicine, Skin Pigmentation, Hypopigmented skin, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Hyperpigmentation, medicine, Humans, Pharmacology (medical), In patient, Cytogenetic and molecular characterization, Child, Gene, Genetic Association Studies, Genetics (clinical), Pigmentary mosaicism, Hypopigmentation, Heterogeneous group, medicine.diagnostic_test, business.industry, Research, lcsh:R, Infant, Karyotype, General Medicine, Human genetics, 030104 developmental biology, Child, Preschool, Karyotyping, Skin biopsy, Melanocytes, Female, business, SNP array