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

الاتاحة: https://doi.org/10.1136/jmg-2023-109546
https://syndication.highwire.org/content/doi/10.1136/jmg-2023-109546

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

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.101337
https://api.elsevier.com/content/article/PII:S2949774424004837?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774424004837?httpAccept=text/plain

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

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

الاتاحة: https://www.zora.uzh.ch/id/eprint/253788/
https://www.zora.uzh.ch/id/eprint/253788/6/Thorsten5_2024.pdf
https://doi.org/10.1093/brain/awad328

المؤلفون: Ibarra-Ramírez, Marisol¹ (AUTHOR) mibarrar@uanl.edu.mx, Campos-Acevedo, Luis D.¹ (AUTHOR) lcamposa@uanl.edu.mx, Valenzuela-Lopez, Aristides² (AUTHOR) aristides.valenzuelalp@uanl.edu.mx, López-Villanueva, Luis Arturo² (AUTHOR) luis.lopezvnv@uanl.edu.mx, Fernandez-de-Luna, Marissa² (AUTHOR) mfernandez.109881@uanl.edu.mx, Mohamed-Noriega, Jibran² (AUTHOR) jibran.mohamednrg@uanl.edu.mx

المصدر: Genes. Sep2024, Vol. 15 Issue 9, p1120. 8p.

مصطلحات موضوعية: *CRYSTALLINE lens, *OCULAR injuries, *GENETIC disorders, *PHENOTYPIC plasticity, *ANTERIOR chamber (Eye)

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

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

الاتاحة: https://repositorio.uchile.cl/handle/2250/185820

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

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

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

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

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

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

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

الاتاحة: http://dx.doi.org/10.1002/mgg3.1176
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmgg3.1176
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1176
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.1176

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

الاتاحة: http://dx.doi.org/10.1212/nxg.0000000000000432
https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000000432

المؤلفون: Lischka, Annette; https://orcid.org/0000-0001-8042-4361, Eggermann, Katja, Record, Christopher J; https://orcid.org/0000-0002-9802-2683, Dohrn, Maike F; https://orcid.org/0000-0002-5320-9807, Laššuthová, Petra, Kraft, Florian; https://orcid.org/0000-0002-5324-9155, Begemann, Matthias, Dey, Daniela, Eggermann, Thomas; https://orcid.org/0000-0002-8419-0264, Beijer, Danique; https://orcid.org/0000-0001-6593-7644, Šoukalová, Jana, Laura, Matilde, Rossor, Alexander M, Mazanec, Radim, Van Lent, Jonas, Tomaselli, Pedro J; https://orcid.org/0000-0002-1485-3771, 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; https://orcid.org/0000-0002-4218-1087, et al

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 الفهرس: Institute of Clinical Chemistry, 540 Chemistry, 610 Medicine & health, Neurology (clinical), Journal Article, PeerReviewed, info:eu-repo/semantics/article, info:eu-repo/semantics/publishedVersion

URL: https://www.zora.uzh.ch/id/eprint/253788/
https://www.zora.uzh.ch/id/eprint/253788
10.1093/brain/awad328
info:eu-repo/grantAgreement/unknown/Ministry of Education, Youth and Sports
info:eu-repo/grantAgreement/unknown/Czech Republic
info:eu-repo/grantAgreement/unknown/Austrian Science Fund
info:eu-repo/grantAgreement/unknown/Swiss National Science Foundation
info:eu-repo/grantAgreement/unknown/Scientific and Technological Research Council of Turkey
info:eu-repo/grantAgreement/unknown/European Joint Programme on Rare Diseases
info:eu-repo/grantAgreement/unknown/European Union's Horizon 2020
info:eu-repo/grantAgreement/EC/FP7/219500
info:eu-repo/grantAgreement/unknown/NIHR
info:eu-repo/grantAgreement/unknown/Department of Health and Social Care
info:eu-repo/grantAgreement/unknown/Association Belge contre les Maladies Neuromusculaires
info:eu-repo/grantAgreement/unknown/Senior Clinical Researcher
info:eu-repo/grantAgreement/unknown/University of Antwerp
info:eu-repo/grantAgreement/EC/H2020/779257
info:eu-repo/grantAgreement/unknown/International Diabetic Neuropathy Consortium
info:eu-repo/grantAgreement/unknown/UKRI

المؤلفون: Rodríguez Sánchez, Irám Pablo, Campos Acevedo, Luis Daniel, Ibarra Ramírez, Marisol, López Uriarte, Areli, Martínez de Villarreal, Laura Elia

مصطلحات موضوعية: Q Ciencias en General

وصف الملف: text

Relation: http://eprints.uanl.mx/24064/1/10.pdf; Rodríguez Sánchez, Irám Pablo y Campos Acevedo, Luis Daniel y Ibarra Ramírez, Marisol y López Uriarte, Areli y Martínez de Villarreal, Laura Elia (2019) Consulta génetica y asesoramiento. Biología y Sociedad, 2 (3). pp. 45-54. ISSN En trámite

الاتاحة: http://eprints.uanl.mx/24064/
http://www.fcb.uanl.mx/bys/
http://eprints.uanl.mx/24064/1/10.pdf

المؤلفون: Citalan-Madrid, Alí F., Cabral-Pacheco, Griselda A., Martinez-de-Villarreal, Laura E., Villarreal-Martinez, Laura, Ibarra-Ramirez, Marisol, Garza-Veloz, Idalia, Cardenas-Vargas, Edith, Marino-Martinez, Ivan, Martinez-Fierro, Margarita L.

المصدر: Hematology ; volume 24, issue 1, page 637-650 ; ISSN 1607-8454

الاتاحة: http://dx.doi.org/10.1080/16078454.2019.1664127
https://www.tandfonline.com/doi/pdf/10.1080/16078454.2019.1664127

المؤلفون: Ibarra-Ramírez, Marisol, Campos-Acevedo, Luis Daniel, Martínez de Villarreal, Laura E.

المصدر: Journal of Pediatric Genetics ; volume 12, issue 04, page 263-272 ; ISSN 2146-4596 2146-460X

الاتاحة: http://dx.doi.org/10.1055/s-0043-1770982
http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0043-1770982.pdf

المؤلفون: Ibarra-Ramírez, Marisol¹ (AUTHOR), Fernandez-de-Luna, Marissa L² (AUTHOR), Campos-Acevedo, Luis D¹ (AUTHOR), Arenas-Estala, Joel¹ (AUTHOR), Martínez-de-Villarreal, Laura E¹ (AUTHOR), Rodríguez-Garza, Claudia³ (AUTHOR), DeLagarza-Pineda, Oscar⁴ (AUTHOR), Mohamed-Noriega, Jibran² (AUTHOR) jibran.mohamednrg@uanl.edu.mx

المصدر: Ophthalmic Genetics. Oct2023, Vol. 44 Issue 5, p465-468. 4p.

مصطلحات موضوعية: *OPTIC nerve, *GENETIC variation, *OPTICAL coherence tomography, *SYNDROMES, *LANGUAGE delay

المؤلفون: Ibarra-Ramirez, Marisol, Campos-Acevedo, Luis Daniel, Lugo-Trampe, Jose, Martínez-Garza, Laura E., Martinez-Glez, Víctor, Valencia, María, Lapunzina, Pablo, Ruiz-Pérez, Victor L.

Relation: Publisher's version; https://doi.org/10.12659/AJCR.905976; Sí; American Journal of Case Reports 18: 1325-1329 (2017); http://hdl.handle.net/10261/187932

الاتاحة: http://hdl.handle.net/10261/187932
https://doi.org/10.12659/AJCR.905976

المؤلفون: Villarreal-Martínez, Laura, Torres-Sánchez, Katia A., Ibarra-Ramírez, Marisol, Martínez-Garza, Laura E., Villarreal-Martínez, Daniel Z., Viera, Daniel A. G., Herrera, María del C. R., O.-Castillo, Miguel, Bautista-Gómez, Andrea J., Martínez, Adrián G., de la Garza, Juan F. M.

المصدر: American Journal of Perinatology ; volume 41, issue S 01, page e573-e576 ; ISSN 0735-1631 1098-8785

الاتاحة: http://dx.doi.org/10.1055/a-1926-0075
http://www.thieme-connect.de/products/ejournals/pdf/10.1055/a-1926-0075.pdf

المؤلفون: Ibarra Ramírez, Marisol, Martínez de Villarreal, Laura Elia

وصف الملف: text

Relation: http://eprints.uanl.mx/11709/1/S1665579616300503_S300_en.pdf; Ibarra Ramírez, Marisol y Martínez de Villarreal, Laura Elia (2016) Clinical and genetic aspects of Turner’s syndrome. Medicina universitaria, 18 (70). pp. 42-48. ISSN 1665-5796

الاتاحة: http://eprints.uanl.mx/11709/
http://eprints.uanl.mx/11709/1/S1665579616300503_S300_en.pdf

المؤلفون: Medina de la Cruz, Antonia Yesenia, Rodríguez Balderrama, Isaías, Burciaga Flores, Carlos Horacio, Martínez de Villarreal, Laura Elia, Ibarra Ramírez, Marisol, O Cavazos, Manuel Enrique de la

مصطلحات موضوعية: RJ Pediatría

وصف الملف: text

Relation: http://eprints.uanl.mx/11699/1/S1665579616300187_S300_en.pdf; Medina de la Cruz, Antonia Yesenia y Rodríguez Balderrama, Isaías y Burciaga Flores, Carlos Horacio y Martínez de Villarreal, Laura Elia y Ibarra Ramírez, Marisol y O Cavazos, Manuel Enrique de la (2016) Spondylothoracic dysostosis, Jarcho Levin syndrome: case report. Medicina universitaria, 18 (70). pp. 16-19. ISSN 1665-5796

الاتاحة: http://eprints.uanl.mx/11699/
http://eprints.uanl.mx/11699/1/S1665579616300187_S300_en.pdf

المؤلفون: Ibarra Ramírez, Marisol, Zamudio Osuna, Michelle de Jesús, Campos Acevedo, Luis Daniel, Gallardo Blanco, Hugo Leonid, Cerda Flores, Ricardo Martín, Rodríguez Sánchez, Irám Pablo, Martínez de Villarreal, Laura Elia

مصطلحات موضوعية: RC Medicina Interna, Psiquiatría, Neurología, RT Enfermería

وصف الملف: text

Relation: http://eprints.uanl.mx/19217/1/Detection%20of%20Turner%20Syndrome%20by%20Quantitative%20PCR%20of%20SHOX%20and%20VAMP7%20Genes.pdf; Ibarra Ramírez, Marisol y Zamudio Osuna, Michelle de Jesús y Campos Acevedo, Luis Daniel y Gallardo Blanco, Hugo Leonid y Cerda Flores, Ricardo Martín y Rodríguez Sánchez, Irám Pablo y Martínez de Villarreal, Laura Elia (2015) Detection of Turner Syndrome by Quantitative PCR of SHOX and VAMP7 Genes. Genetic testing and molecular biomarkers, 19 (2). pp. 1-5. ISSN 1945-0257

الاتاحة: http://eprints.uanl.mx/19217/
http://eprints.uanl.mx/19217/1/Detection%20of%20Turner%20Syndrome%20by%20Quantitative%20PCR%20of%20SHOX%20and%20VAMP7%20Genes.pdf

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

الاتاحة: http://dx.doi.org/10.1016/j.euroneuro.2021.08.052
https://api.elsevier.com/content/article/PII:S0924977X21005289?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0924977X21005289?httpAccept=text/plain