المؤلفون: Rodriguez, David, Campos, Luis Daniel, Ibarra-Ramirez, Marisol, Martinez-De Villarreal, Laura

المصدر: Genetics in Medicine Open ; volume 2, page 101337 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2024.101337Test
https://api.elsevier.com/content/article/PII:S2949774424004837?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424004837?httpAccept=text/plainTest

المؤلفون: Lischka, Annette, Eggermann, Katja, Record, Christopher J, Dohrn, Maike F, Laššuthová, Petra, Kraft, Florian, Begemann, Matthias, Dey, Daniela, Eggermann, Thomas, Beijer, Danique, Šoukalová, Jana, Laura, Matilde, Rossor, Alexander M, Mazanec, Radim, Van Lent, Jonas, Tomaselli, Pedro J, Ungelenk, Martin, Debus, Karlien Y, Feely, Shawna M E, Gläser, Dieter, Jagadeesh, Sujatha, Martin, Madelena, Govindaraj, Geeta M, Singhi, Pratibha, Baineni, Revanth, Biswal, Niranjan, Ibarra-Ramírez, Marisol, Bonduelle, Maryse, Gess, Burkhard, Hornemann, T

المصدر: Lischka, Annette; Eggermann, Katja; Record, Christopher J; Dohrn, Maike F; Laššuthová, Petra; Kraft, Florian; Begemann, Matthias; Dey, Daniela; Eggermann, Thomas; Beijer, Danique; Šoukalová, Jana; Laura, Matilde; Rossor, Alexander M; Mazanec, Radim; Van Lent, Jonas; Tomaselli, Pedro J; Ungelenk, Martin; Debus, Karlien Y; Feely, Shawna M E; Gläser, Dieter; Jagadeesh, Sujatha; Martin, Madelena; Govindaraj, Geeta M; Singhi, Pratibha; Baineni, Revanth; Biswal, Niranjan; Ibarra-Ramírez, Marisol; Bonduelle, Maryse; Gess, Burkhard; Hornemann, T; et al (2023). Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies. Brain: a journal of neurology, 146(12):4880-4890.

مصطلحات موضوعية: Institute of Clinical Chemistry, 540 Chemistry, 610 Medicine & health, Neurology (clinical)

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/253788/6/Thorsten5_2024.pdfTest; info:pmid/37769650; urn:issn:0006-8950

الإتاحة: https://doi.org/10.5167/uzh-25378810.1093/brain/awad328Test
https://www.zora.uzh.ch/id/eprint/253788Test/
https://www.zora.uzh.ch/id/eprint/253788/6/Thorsten5_2024.pdfTest

المؤلفون: Altunoglu, Umut, Palencia-Campos, Adrian, Güneş, Nilay, Turgut, Gozde Tutku, Nevado, Julian, Lapunzina, Pablo, Valencia, Maria, Iturrate, Asier, Otaify, Ghada, Elhossini, Rasha, Ashour, Adel, K. Amin, Asmaa, Elnahas, Rania F, Fernandez-Nuñez, Elisa, Flores, Carmen-Lisset, Arias, Pedro, Tenorio, Jair, Chamorro Fernández, Carlos Israel, Güven, Yeliz, Özsu, Elif, Eklioğlu, Beray Selver, Ibarra-Ramirez, Marisol, Diness, Birgitte Rode, Burnyte, Birute, Ajmi, Houda, Yüksel, Zafer, Yıldırım, Ruken, Ünal, Edip, Abdalla, Ebtesam, Aglan, Mona, Kayserili, Hulya, Tuysuz, Beyhan, Ruiz-Pérez, Victor

المساهمون: FEDER funds through ISCIII, Spanish Ministry of Economy and Competitiveness

المصدر: Journal of Medical Genetics ; volume 61, issue 7, page 633-644 ; ISSN 0022-2593 1468-6244

الإتاحة: https://doi.org/10.1136/jmg-2023-109546Test

المؤلفون: Morris, Joan, Orioli, Leda M, Benavides Lara, Adriana, Barboza Arguello, María de la Paz, Canessa Tapia, María Aurora De Lourdes, Araújo de França, Giovanny Vinícius, Groisman, Boris, Holguín, Jorge, Hurtado Villa, Paula Margarita, Ibarra Ramírez, Marisol, Mellado, Cecilia, Pardo Vargas, Rosa Andrea, Pastora Bucardo, Dania María, Rodríguez, Catherin, Zarante, Ignacio, Limb, Elizabeth, Dolk, Helen

المصدر: BMJ Paediatrics Open

مصطلحات موضوعية: Epidemiology, Data collection

وصف الملف: application/pdf

العلاقة: BMJ Paediatrics Open 2021;5:e001235; https://repositorio.uchile.cl/handle/2250/185820Test

الإتاحة: https://repositorio.uchile.cl/handle/2250/185820Test

المؤلفون: Ibarra-Ramírez, Marisol, Calvo-Anguiano, Geovana, Lugo-Trampe, José de Jesús, Martínez-de-Villarreal, Laura Elia, Rodríguez-Torres, David, Nistal, Manuel, González-Peramato, Pilar

المساهمون: UAM. Departamento de Anatomía Patológica, UAM. Departamento de Anatomía, Histología y Neurociencia

مصطلحات موضوعية: Klinefelter syndrome (KS), Oligozoospermia, Degenerative process of germ cells, MicroRNA, Spermatogenesis, Testicular tissue, Medicina

وصف الملف: application/pdf

العلاقة: Scientific Reports; https://doi.org/10.1038/s41598-020-68294-7Test; Scientific Reports 10.1 (2020): 11470; http://hdl.handle.net/10486/696426Test; 11470-1; 11470-11; 10

الإتاحة: https://doi.org/10.1038/s41598-020-68294-7Test
http://hdl.handle.net/10486/696426Test

المؤلفون: Lugo-Ocana, Glenda, Sánchez-Ruiz, Jorge, Costilla-Esquivel, Antonio, González, Sarai, Luna, Sofia, Padrón, Carolina, Ibarra-Ramírez, Marisol, de Villareal, Laura Martínez, Rodríguez, Iram, Cuellar-Barboza, Alfredo

المصدر: European Neuropsychopharmacology ; volume 51, page e121-e122 ; ISSN 0924-977X

مصطلحات موضوعية: Pharmacology (medical), Biological Psychiatry, Psychiatry and Mental health, Neurology (clinical), Neurology, Pharmacology

الإتاحة: https://doi.org/10.1016/j.euroneuro.2021.08.052Test
https://api.elsevier.com/content/article/PII:S0924977X21005289?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0924977X21005289?httpAccept=text/plainTest

المؤلفون: Orioli, Ieda María, Dolk, Helen, López Camelo, Jorge, Groisman, Boris, Benavides Lara, Adriana, Giménez, Lucas Gabriel, Mattos Correa, Daniel, Ascurra, Marta, Aquino Bonilha, Eliana de, Canessa Tapia, María Aurora, Araújo de França, Giovanny Vinícius, Hurtado Villa, Paula, Ibarra Ramírez, Marisol, Pardo, Rosa, Pastora, Dania María, Zarante, Ignacio, Schneider Soares, Flavia, Martínez de Carvalho, Flavia, Piola, Mariana

المصدر: American Journal of Medical Genetics Part C-Seminars in Medical Genetics

مصطلحات موضوعية: Congenital anomaly, Down syndrome, Latin America, Microcephaly, Stillbirths, Surveillance

وصف الملف: application/pdf

العلاقة: Am J Med Genet. 2020;184C:1078–1091; https://repositorio.uchile.cl/handle/2250/180153Test

الإتاحة: https://doi.org/10.1002/ajmg.c.31872Test
https://repositorio.uchile.cl/handle/2250/180153Test

المؤلفون: Salinas‐Torres, Víctor M., Gallardo‐Blanco, Hugo L., Salinas‐Torres, Rafael A., Cerda‐Flores, Ricardo M., Lugo‐Trampe, José J., Villarreal‐Martínez, Daniel Z., Ibarra‐Ramírez, Marisol, Martínez de Villarreal, Laura E.

المصدر: Molecular Genetics & Genomic Medicine ; volume 8, issue 5 ; ISSN 2324-9269 2324-9269

الإتاحة: https://doi.org/10.1002/mgg3.1176Test

المؤلفون: Ibarra-Ramírez, Marisol, Calvo-Anguiano, Geovana, Lugo-Trampe, José de Jesús, Martínez-de-Villarreal, Laura Elia, Rodríguez-Torres, David, Nistal, Manuel, González-Peramato, Pilar

المصدر: Scientific Reports ; volume 10, issue 1 ; ISSN 2045-2322

مصطلحات موضوعية: Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41598-020-68294-7Test
https://www.nature.com/articles/s41598-020-68294-7.pdfTest
https://www.nature.com/articles/s41598-020-68294-7Test

المؤلفون: Elizondo-Plazas, Anasofia, Ibarra-Ramírez, Marisol, Garza-Báez, Azalea, Martínez-de-Villarreal, Laura Elia

المصدر: Neurology Genetics ; volume 6, issue 3 ; ISSN 2376-7839

الإتاحة: https://doi.org/10.1212/nxg.0000000000000432Test