المؤلفون: Ricardo González-Tarancón, Nuria Goñi-Ros, Elvira Salvador-Rupérez, Ángela Hernández-Martín, Silvia Izquierdo-Álvarez, José Puzo-Foncillas, Yolanda Gilaberte-Calzada

المصدر: JMIR Dermatology, Vol 6, p e39567 (2023)

مصطلحات موضوعية: Dermatology, RL1-803

وصف الملف: electronic resource

Relation: https://derma.jmir.org/2023/1/e39567; https://doaj.org/toc/2562-0959

URL الوصول: https://doaj.org/article/a962beda92c54a0aa9f666248f68e46d

المؤلفون: Paula Sienes Bailo, Nuria Goñi-Ros, José Gazulla, Sara Álvarez de Andrés, Ignacio Ros Arnal, Silvia Izquierdo Álvarez

المصدر: Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-7 (2022)

مصطلحات موضوعية: Hereditary motor and sensory neuropathy, Waardenburg syndrome, PCWH syndrome, SOX10, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-2441

URL الوصول: https://doaj.org/article/8e582fcb304f406bbb797dd48c873cc5

المؤلفون: Jose Cuenca Alcocel, Elena Criado Álamo, Elvira Salvador-Rupérez, Nuria Goñi Ros, Silvia Izquierdo Álvarez, Jose Luis Peña Segura, Ricardo González-Tarancón

المصدر: Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-6 (2023)

مصطلحات موضوعية: LAMSH, SOX5, p.(Tyr543IlefsTer14), Developmental delay, Neurodevelopmental delay, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-2441

URL الوصول: https://doaj.org/article/9993d9e32479434ea854f905a57c64c2

المؤلفون: Nuria Goñi Ros, Paula Sienes Bailo, Ricardo González Tarancón, Loreto Martorell Sampol, Silvia Izquierdo Álvarez

المصدر: Advances in Laboratory Medicine / Avances en Medicina de Laboratorio.

مصطلحات موضوعية: Medical Laboratory Technology, Medicine (miscellaneous), Education

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::998d55fe1c7da198993edfc0a5e1ffab
https://doi.org/10.1515/almed-2022-0120

المؤلفون: Claudia Abadía Molina, Nuria Goñi Ros, Ricardo González Tarancón, Luis Rello Varas, Valle Recasens Flores, Silvia Izquierdo Álvarez

المصدر: Journal of Trace Elements in Medicine and Biology. 78:127194

مصطلحات موضوعية: Inorganic Chemistry, Molecular Medicine, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::23b015bb0137873c98707237187e47da
https://doi.org/10.1016/j.jtemb.2023.127194

المؤلفون: Ricardo González-Tarancón, Nuria Goñi-Ros, Elvira Salvador-Rupérez, Ángela Hernández-Martín, Silvia Izquierdo-Álvarez, José Puzo-Foncillas, Yolanda Gilaberte-Calzada

مصطلحات موضوعية: Health Information Management, Health Informatics, Dermatology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ff7c4932f74ba49c8785de5fdb197e7
https://doi.org/10.2196/preprints.39567

المؤلفون: Nuria Goñi Ros, Paula Sienes Bailo, María Santamaría González, Jose Luis Bancalero Flores, María Montserrat Sagrado Arroyo, Eduardo Martínez Morillo

المصدر: Revista de Medicina de Laboratorio.

مصطلحات موضوعية: General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6c30f61971f55436896a4a6446379b9b
https://doi.org/10.20960/revmedlab.00133

المؤلفون: Elvira Salvador-Ruperez, Ricardo Gonzalez-Tarancon, Nuria Goñi Ros, José Puzo Foncillas, Martín Puzo Bayod, Paula Sienes Bailo

المصدر: Acta clinica Belgica. 77(6)

مصطلحات موضوعية: Male, Threonine, Genetic counseling, Disease, Phosphatidylcholine-Sterol O-Acyltransferase, symbols.namesake, Corneal Opacity, Lecithin Cholesterol Acyltransferase Deficiency, Lecithins, Medicine, Missense mutation, Animals, Humans, Histidine, Fish-Eye Disease, Genetic testing, Sanger sequencing, Lecithin cholesterol acyltransferase deficiency, medicine.diagnostic_test, business.industry, Cholesterol, HDL, General Medicine, medicine.disease, Immunology, symbols, business, Lipid profile, Sterol O-Acyltransferase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8957a0b6bfd3fa78f98676359ae544bb
https://pubmed.ncbi.nlm.nih.gov/34789074