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1Academic Journal
المؤلفون: Inmaculada Moreno-Gázquez, Raquel Pérez-Palacios, Lucia Abengochea-Quílez, Carmen Lahuerta Pueyo, Ana Roteta Unceta Barrenechea, Alejandro Andrés Gracia, Miguel Angel Aibar Arregui, Sebastián Menao Guillén
المصدر: BMC Research Notes, Vol 16, Iss 1, Pp 1-8 (2023)
مصطلحات موضوعية: ATTRwt amyloidosis, Gene variants, Targeted sequencing, Transthyretin amyloidosis, Medicine, Biology (General), QH301-705.5, Science (General), Q1-390
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-0500
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2Academic Journal
المؤلفون: Daniel Grados-Saso, Javier Escota-Villanueva, Alba Alonso-Lorente, María Jesús Andrés-Otero, Carmen Lahuerta-Pueyo
المصدر: Revista Colombiana de Cardiología, Vol 26, Iss 6, Pp 338-341 (2019)
مصطلحات موضوعية: Diseases of the circulatory (Cardiovascular) system, RC666-701
وصف الملف: electronic resource
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3
المؤلفون: Ana, Roteta Unceta-Barrenechea, Jorge, Melero Polo, Alejandro, Andrés Gracia, Pablo, Revilla Martí, Sebastian, Menao Guillén, Carmen, Lahuerta Pueyo, Raquel, Pérez-Palacios, Inmaculada, Moreno Gázquez, Anyuli Gracia, Gutiérrez, Miguel Ángel, Aibar Arregui
المصدر: Acta Cardiol Sin
مصطلحات موضوعية: Original Article
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4
المؤلفون: Sebastián Menao Guillén, Miguel Ángel Aibar Arregui, Carmen Lahuerta Pueyo, Alejandro Andrés Gracia, Ana Roteta Unceta Barrenechea, Pablo Revilla Martí, Jorge Melero Polo
المصدر: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis. 28(2)
مصطلحات موضوعية: endocrine system, medicine.medical_specialty, Amyloid Neuropathies, Familial, biology, business.industry, nutritional and metabolic diseases, 030204 cardiovascular system & hematology, 03 medical and health sciences, Patient population, Transthyretin, 0302 clinical medicine, Cardiac amyloidosis, Internal medicine, Mutation, Internal Medicine, medicine, biology.protein, Prevalence, Humans, Prealbumin, business, 030217 neurology & neurosurgery
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5
المؤلفون: Anyuli Gracia Gutiérrez, Esperanza Bueno Juana, Carmen Lahuerta Pueyo, Sebastián Menao Guillén, Miguel Ángel Aibar Arregui
المصدر: Eur J Hum Genet
مصطلحات موضوعية: Population, Disease, Article, 03 medical and health sciences, Databases, Genetic, Genetics, medicine, Humans, Prealbumin, Missense mutation, Clinical significance, Allele, education, Alleles, Genetics (clinical), 0303 health sciences, education.field_of_study, biology, Amyloidosis, 030305 genetics & heredity, Sequence Analysis, DNA, medicine.disease, Penetrance, Transthyretin, Mutation, biology.protein
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6
المؤلفون: Javier Escota-Villanueva, María Jesús Andrés-Otero, Alba Alonso-Lorente, Carmen Lahuerta-Pueyo, Daniel Grados-Saso
المصدر: Zaguán. Repositorio Digital de la Universidad de Zaragoza
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Revista Colombiana de Cardiología, Vol 26, Iss 6, Pp 338-341 (2019)
Zaguán: Repositorio Digital de la Universidad de Zaragoza
Universidad de Zaragozaمصطلحات موضوعية: 0301 basic medicine, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, RC666-701, Diseases of the circulatory (Cardiovascular) system, Cardiology and Cardiovascular Medicine, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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7Clinical manifestations in hereditary amyloidosis with the variant Glu54Gln transthyretin: a comment
المؤلفون: Carmen Lahuerta Pueyo, Ana Roteta Unceta Barrenechea, Alejandro Andrés Gracia, Sebastián Menao Guillén, Miguel Ángel Aibar Arregui, Miguel Ángel Torralba Cabeza, Jorge Melero Polo
المصدر: Amyloid. 27:144-144
مصطلحات موضوعية: Amyloid Neuropathies, Familial, medicine.medical_specialty, biology, business.industry, nutritional and metabolic diseases, 030204 cardiovascular system & hematology, Dermatology, Hereditary Amyloidosis, 03 medical and health sciences, Transthyretin, 0302 clinical medicine, Internal Medicine, biology.protein, medicine, Humans, Prealbumin, business, Amyloidosis, Familial, 030217 neurology & neurosurgery