المؤلفون: Paula Huerta V., Joaquín Cristi P., Pedro Pablo Neira R., Gabriela Repetto L., Iris Delgado B.

المصدر: Revista Chilena de Salud Pública, Vol 25, Iss 2, Pp 174-182 (2022)

مصطلحات موضوعية: fibrosis quística, epidemiología, mortalidad infantil, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: https://revistasaludpublica.uchile.cl/index.php/RCSP/article/view/67040; https://doaj.org/toc/0717-3652; https://doaj.org/toc/0719-5281

URL الوصول: https://doaj.org/article/0b5e3afcd3774db3afd864c66d12065f

المؤلفون: Luisa, Schonhaut B, Joanna, Britzmann L, Mario, Zanolli S, Jovanka, Pavlov N, Trinidad, Hasbun Z, Gabriela, Repetto L

المصدر: Revista chilena de pediatria. 91(4)

مصطلحات موضوعية: Infant, Newborn, Humans, Female, Albinism, Ocular, Nystagmus, Congenital

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::683ca8a27347fbae51b9bbf92d50be1e
https://pubmed.ncbi.nlm.nih.gov/33399735

المؤلفون: Carolina, Aron W, Geraldinne, Rauch L, Felipe, Benavides G, M Gabriela, Repetto L

المصدر: Revista chilena de pediatria. 90(2)

مصطلحات موضوعية: Adult, Genetic Markers, Adolescent, Methyl-CpG-Binding Protein 2, Young Adult, Child, Preschool, Gene Duplication, Rett Syndrome, Humans, Female, Genetic Testing, Chile, Child, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::474f9739517f90a145f968bf331733d5
https://pubmed.ncbi.nlm.nih.gov/31095231

المؤلفون: Gabriela Repetto L., Patricio Manque M, Alonso Puga Y, Guillermo Lay-Son R, Marcos Vásquez D

المصدر: Revista chilena de pediatría v.85 n.4 2014
SciELO Chile
CONICYT Chile
instacron:CONICYT

مصطلحات موضوعية: Genetic counseling, Population, Gen CFTR, medicine.disease_cause, Cystic fibrosis, Secuenciación masiva, medicine, Chile, Allele, education, Genetic testing, Genetics, Mutation, education.field_of_study, Mutación, medicine.diagnostic_test, biology, Diagnóstico, Genetic disorder, Detección, medicine.disease, Genética, Cystic fibrosis transmembrane conductance regulator, Fibrosis quística, Pediatrics, Perinatology and Child Health, Discapacidad, biology.protein

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23762caccdd38b7731ab282601deb7dc
https://doi.org/10.4067/s0370-41062014000400007

المؤلفون: Carolina Aron W., Geraldinne Rauch L., Felipe Benavides G., M. Gabriela Repetto L.

المصدر: Revista chilena de pediatría v.90 n.2 2019
SciELO Chile
CONICYT Chile
instacron:CONICYT

مصطلحات موضوعية: Sanger sequencing, medicine.medical_specialty, medicine.diagnostic_test, Proteína de unión a metil CpG2, business.industry, Genetic disorder, Rett syndrome, Neurological disorder, medicine.disease, MECP2, symbols.namesake, Internal medicine, Pediatrics, Perinatology and Child Health, Gene duplication, medicine, symbols, Multiplex ligation-dependent probe amplification, business, Síndrome de Rett, Genetic testing

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f497418274092471dfaa934817bdb60a
https://doi.org/10.32641/rchped.v90i2.724

المؤلفون: Ilse Contreras E, Marcos Vásquez D, Felipe Vial U, María Lina Boza C, Jaime Lozano C, Daniel Zenteno A, Guillermo Lay-Son R, María Gabriela Repetto L

المصدر: Revista chilena de enfermedades respiratorias v.28 n.2 2012
SciELO Chile
CONICYT Chile
instacron:CONICYT

مصطلحات موضوعية: Fibrosis quística, análisis de secuencia, mutaciones, General Medicine, CFTR, Chile

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae0e3a5b4bd1748a1e0a745d8ba75582
https://doi.org/10.4067/s0717-73482012000200003

المؤلفون: Ignacio Sánchez, Paul Harris D, Marianne Kolbach R, Helena Poggi M, Gabriela Repetto L, Arnaldo Foradori C, Héctor Navarro M, Ernesto Guiraldes C

المصدر: Revista médica de Chile v.130 n.5 2002
SciELO Chile
CONICYT Chile
instacron:CONICYT

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Mutation, medicine.medical_specialty, Pathology, business.industry, Incidence (epidemiology), Meconium Ileus, General Medicine, Disease, medicine.disease_cause, medicine.disease, Gastroenterology, Cystic fibrosis, Internal medicine, Genotype, medicine, Cystic fibrosis transmembrane conductance regulator, Family history, Allele, business, Genetics, medical

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3810e7da6a1e1569a4acc608543ae96b
https://doi.org/10.4067/s0034-98872002000500001

المؤلفون: Gabriela Repetto L, Helena Poggi M, Paul Harris D, Héctor Navarro M, Ignacio Sánchez D, Ernesto Guiraldes C, M Angélica Pérez H, M Lina Boza R, Bessie Hunter M, M Elena Wevar C, Marisol Mediavilla R, Arnaldo Foradori C

المصدر: Revista médica de Chile, Volume: 129, Issue: 8, Pages: 841-847, Published: AUG 2001
Revista médica de Chile v.129 n.8 2001
SciELO Chile
CONICYT Chile
instacron:CONICYT

مصطلحات موضوعية: Counseling, Mutation, Pathology, medicine.medical_specialty, biology, business.industry, Genetic counseling, General Medicine, Gene mutation, medicine.disease_cause, medicine.disease, Cystic fibrosis, Cystic fibrosis transmembrane conductance regulator, Immunology, Genotype, Mutation testing, biology.protein, medicine, Allele, business, Genetics, medical

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d88397a99a500a85337334b31b5e991
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872001000800001&lng=en&tlng=en

المؤلفون: Gabriela Repetto L., Felipe Heusser R

المصدر: Revista chilena de pediatría, Volume: 71, Issue: 3, Pages: 276-276, Published: MAY 2000
Revista chilena de pediatría v.71 n.3 2000
SciELO Chile
CONICYT Chile
instacron:CONICYT

مصطلحات موضوعية: Down syndrome, business.industry, Pediatrics, Perinatology and Child Health, Medicine, business, medicine.disease, Humanities

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad3e8de78a7e6060943a12a9351af707
https://doi.org/10.4067/s0370-41062000000300017

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