المؤلفون: Giovanni Taccetti, Matteo Botti, Vito Terlizzi, Maria Chiara Cavicchi, Anna Silvia Neri, Valeria Galici, Gianfranco Mergni, Claudia Centrone, Diego G. Peroni, Filippo Festini

المصدر: Diagnostics; Volume 10; Issue 7; Pages: 446

مصطلحات موضوعية: cystic fibrosis, salt-loss syndrome, metabolic alkalosis, false-negative cystic fibrosis screening, neonatal screening, diagnosis cystic fibrosis, CFTR mutation screening

وصف الملف: application/pdf

العلاقة: Pathology and Molecular Diagnostics; https://dx.doi.org/10.3390/diagnostics10070446Test

الإتاحة: https://doi.org/10.3390/diagnostics10070446Test

المؤلفون: accetti G, Botti M, Terlizzi V, Cavicchi MC, Neri AS, Galici V, Mergni G, Centrone C, Peroni D, Festini F

المساهمون: Accetti, G, Botti, M, Terlizzi, V, Cavicchi, Mc, Neri, A, Galici, V, Mergni, G, Centrone, C, Peroni, D, Festini, F

مصطلحات موضوعية: CFTR mutation screening, cystic fibrosi, diagnosis cystic fibrosi, false-negative cystic fibrosis screening, metabolic alkalosi, neonatal screening, salt-loss syndrome

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32630227; info:eu-repo/semantics/altIdentifier/wos/WOS:000554271600001; volume:10; issue:7; firstpage:446; journal:DIAGNOSTICS; http://hdl.handle.net/11568/1070436Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85088257172

الإتاحة: https://doi.org/10.3390/diagnostics10070446Test
http://hdl.handle.net/11568/1070436Test

المؤلفون: Vito Terlizzi, Valeria Galici, Anna Silvia Neri, G. Mergni, C. Centrone, Diego Peroni, Giovanni Taccetti, Maria Chiara Cavicchi, Filippo Festini, Matteo Botti

المصدر: Diagnostics, Vol 10, Iss 446, p 446 (2020)
Diagnostics
Volume 10
Issue 7

مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, Clinical Biochemistry, Primary care, diagnosis cystic fibrosis, Delayed diagnosis, Cystic fibrosis, Article, CFTR mutation screening, cystic fibrosis, false-negative cystic fibrosis screening, metabolic alkalosis, neonatal screening, salt-loss syndrome, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Medicine, Newborn screening, lcsh:R5-920, business.industry, Public health, Genetic disorder, food and beverages, medicine.disease, Hypochloremic alkalosis, 030228 respiratory system, embryonic structures, Allelic heterogeneity, business, lcsh:Medicine (General)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa268e2cf8ad54d4c25e2f5da048d7d3Test
https://www.mdpi.com/2075-4418/10/7/446Test

المؤلفون: Nardone Anna, Russo Silvia, Bengala Mario, Gambardella Stefano, D'Apice Maria, Lucidi Vincenzina, Sangiuolo Federica, Novelli Giuseppe

المصدر: BMC Medical Genetics, Vol 5, Iss 1, p 8 (2004)

مصطلحات موضوعية: Cystic fibrosis, CFTR mutation screening, DHPLC, Internal medicine, RC31-1245, Genetics, QH426-470

العلاقة: http://www.biomedcentral.com/1471-2350/5/8Test; https://doaj.org/toc/1471-2350Test; https://doaj.org/article/0fb26338a14448cda963101e178b319eTest

الإتاحة: https://doi.org/10.1186/1471-2350-5-8Test
https://doaj.org/article/0fb26338a14448cda963101e178b319eTest

المؤلفون: Stefano Gambardella, Anna Maria Nardone, Maria Rosaria D'Apice, Giuseppe Novelli, Federica Sangiuolo, Silvia Russo, Mario Bengala, Vincenzina Lucidi

المصدر: BMC Medical Genetics, Vol 5, Iss 1, p 8 (2004)
BMC Medical Genetics

مصطلحات موضوعية: DNA Mutational Analysis, Cystic Fibrosis Transmembrane Conductance Regulator, Nucleic Acid Denaturation, Cystic fibrosis, Male infertility, Cohort Studies, Exon, Leukocytes, Missense mutation, Genetics(clinical), CFTR mutation screening, Polymorphism, Genetic, Exons, Humans, Child, Mutation, Missense, Chromatography, High Pressure Liquid, Italy, Genetic Testing, Cystic Fibrosis, DNA, Introns, Mutation, 5' Untranslated Regions, Sequence Deletion, Genetics (clinical), Genetics, education.field_of_study, Chromatography, Technical Advance, High Pressure Liquid, Allelic heterogeneity, lcsh:Internal medicine, lcsh:QH426-470, Genetic counseling, Population, Biology, Genetic, DHPLC, medicine, Polymorphism, education, lcsh:RC31-1245, medicine.disease, Human genetics, lcsh:Genetics, Settore MED/03 - Genetica Medica, Missense

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::648949dbdfe2b4e277a7068dd796e98bTest
http://www.biomedcentral.com/1471-2350/5/8Test

المؤلفون: D'Apice, Maria, Gambardella, Stefano, Bengala, Mario, Russo, Silvia, Nardone, Anna, Lucidi, Vincenzina, Sangiuolo, Federica, Novelli, Giuseppe

مصطلحات موضوعية: Cystic fibrosis, CFTR mutation screening, DHPLC

العلاقة: http://www.biomedcentral.com/1471-2350/5/8Test

الإتاحة: http://www.biomedcentral.com/1471-2350/5/8Test