نتائج البحث - "Maria V. Gomez"

المصدر: PLoS One . 2020 Apr 29;15(4):e0232216
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
Investigo. Repositorio Institucional de la Universidade de Vigo
Universidade de Vigo (UVigo)
PLoS ONE
PLoS ONE, Vol 15, Iss 4, p e0232216 (2020)

مصطلحات موضوعية: Male, Pulmonology, Heart disease, medicine.medical_treatment, 030204 cardiovascular system & hematology, 0302 clinical medicine, Medicine and Health Sciences, Morphogenesis, Medicine, Familial Primary Pulmonary Hypertension, Pulmonary Arteries, Respiratory System Procedures, Child, Pulmonary Hypertension, Multidisciplinary, medicine.diagnostic_test, Interstitial lung disease, Arteries, Genomics, Congenital Heart Defects, Middle Aged, Prognosis, Pedigree, Phenotype, Codon, Nonsense, Child, Preschool, Pulmonary venoocclusive disease, Cardiology, Female, Anatomy, Research Article, Lung Transplantation, Adult, medicine.medical_specialty, Histology, Adolescent, Science, 3205.08 Enfermedades Pulmonares, Mutation, Missense, Surgical and Invasive Medical Procedures, Interstitial Lung Diseases, Polymorphism, Single Nucleotide, Diagnosis, Differential, 03 medical and health sciences, Genomic Medicine, Internal medicine, Clinical heterogeneity, Genetics, Congenital Disorders, Humans, Lung transplantation, Genetic Predisposition to Disease, Genetic Testing, Birth Defects, Genetic testing, Clinical Genetics, Transplantation, 2409 Genética, business.industry, Biology and Life Sciences, Genetic Variation, Human Genetics, Organ Transplantation, medicine.disease, 3207.04 Patología Cardiovascular, Pulmonary hypertension, 030228 respiratory system, Cardiovascular Anatomy, Blood Vessels, Pulmonary Veno-Occlusive Disease, Differential diagnosis, T-Box Domain Proteins, business, Gene Deletion, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2645d3d2465f2c451e8ba079b43a358eTest
https://doi.org/10.1371/journal.pone.0232216Test

8

CLAPO syndrome: Identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

المساهمون: Asociación Ultrafondo Solidario, Villarreal FC, Corporación de Radio y Televisión Española, Fundación Isabel Gemio, Instituto de Salud Carlos III, Federación Española de Enfermedades Neuromusculares, Federación Española de Enfermedades Raras, Fundación Conchita Rábago de Jiménez Díaz, Universidad Autónoma de Madrid

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
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مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Capillary malformation, Class I Phosphatidylinositol 3-Kinases, Somatic cell, 030105 genetics & heredity, Biology, Deep sequencing, CLAPO, Overgrowth, Arteriovenous Malformations, 03 medical and health sciences, Phosphatidylinositol 3-Kinases, medicine, Humans, Child, Lymphatic Diseases, Genetics (clinical), Genetic Association Studies, Retrospective Studies, Genetics, business.industry, Vascular malformation, High-Throughput Nucleotide Sequencing, PIK3CA, medicine.disease, Phenotype, Somatic mosaicism, Natural history, 030104 developmental biology, Lymphatic system, Mutation, Cohort, Vascular Disorder, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::650b41c7c89879fd045c7aa85fa20ea0Test
https://doi.org/10.1101/154591Test

9

Elderly Woman With a Cough

المؤلفون: Maria V. Gomez, Michael Gottlieb

المصدر: Annals of emergency medicine. 69(3)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f28e7de8119fb5c8d05414cc4a3a3119Test
https://pubmed.ncbi.nlm.nih.gov/28232000Test

10

Abstract 201: BMP-pSmad1/5/8 Pathway Activation in a Novel Mouse Model of Calcific Aortic Valve Disease

المؤلفون: Maria V Gomez, Jonathan D Cheek, Elaine E Wirrig, Katherine E Yutzey

المصدر: Circulation Research. 113

مصطلحات موضوعية: Physiology, Cardiology and Cardiovascular Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a20fa9f4b1e87ad232ade6687a9b625cTest
https://doi.org/10.1161/res.113.suppl_1.a201Test

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