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1
المؤلفون: Lucio Armenio, Maria Giuseppa Pantaleo, Antonio Manca, Vito Paolo Logrillo, Riccardina Tesse, Angela Polizzi, Anna Diana, Teresa Santostasi, Maria Domenica Cazzato
المصدر: Genetics and Molecular Biology, Volume: 34, Issue: 3, Pages: 416-420, Published: 2011
Genetics and Molecular Biology
Genetics and Molecular Biology, Vol 34, Iss 3, Pp 416-420 (2011)مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, lcsh:QH426-470, phenotype, Short Communication, complex allele, Population, Biology, Gene mutation, medicine.disease_cause, Cystic fibrosis, cystic fibrosis, Exon, Genetics, medicine, CFTR, Allele, education, Molecular Biology, education.field_of_study, Mutation, medicine.disease, Phenotype, Cystic fibrosis transmembrane conductance regulator, lcsh:Genetics, Human and Medical Genetics, biology.protein
وصف الملف: text/html
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60eb91bb5acad194684a4b85b999948cTest
https://doi.org/10.1590/s1415-47572011000300008Test -
2
المصدر: Genetics and Molecular Biology, Volume: 32, Issue: 4, Pages: 716-719, Published: 23 OCT 2009
Genetics and Molecular Biology, Vol 32, Iss 4, Pp 716-719 (2009)
Genetics and Molecular Biology v.32 n.4 2009
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBGمصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Proteases, lcsh:QH426-470, Short Communication, Population, lymphomas, Cathepsin G, Biology, polymorphism, Serine, Alpha-1-antitrypsin, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Proteinase 3, Genetics, Allele, education, Molecular Biology, 030304 developmental biology, Serine protease, 0303 health sciences, education.field_of_study, Molecular biology, 3. Good health, lcsh:Genetics, chemistry, 030220 oncology & carcinogenesis, Neutrophil elastase, Human and Medical Genetics, Immunology, biology.protein
وصف الملف: text/html
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3f31bfa7962f1b9b459c3c90e84cb45Test
https://doi.org/10.1590/s1415-47572009005000085Test -
3
المؤلفون: Milene Raiol-Moraes, Antonette El-Husny, Paulo Pimentel Assumpção, André Montagnini, André M. Ribeiro-dos-Santos, Marcos Antônio Trindade Amador, Artur Silva, Sidney Santos, Silvanira Barbosa, Ândrea Ribeiro-dos-Santos, Aline Cruz, Geraldo Ishak, Pablo Pinto
المصدر: Genetics and Molecular Biology
Genetics and Molecular Biology v.39 n.2 2016
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Volume: 39, Issue: 2, Pages: 189-198, Published: 13 MAY 2016
Genetics and Molecular Biology, Iss 0 (2016)
Genetics and Molecular Biology, Vol 39, Iss 2, Pp 189-198 (2016)مصطلحات موضوعية: 0301 basic medicine, Proband, lcsh:QH426-470, QH426-470, Biology, medicine.disease_cause, DNA sequencing, CDH1, Special Oncogenetics, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, HDGC, Genetics, medicine, Developing regions, Molecular Biology, Mutation, Cancer, medicine.disease, lcsh:Genetics, Gastric Cancer, 030104 developmental biology, 030220 oncology & carcinogenesis, NGS, biology.protein, germline mutations, Hereditary diffuse gastric cancer
وصف الملف: text/html
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65201fb5092376581877bb4225739741Test
https://pubmed.ncbi.nlm.nih.gov/27192129Test -
4
المؤلفون: Daniel Simon, Israel Roisenberg, Eliane Bandinelli
المصدر: Genetics and Molecular Biology v.26 n.4 2003
Genetics and Molecular Biology
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Vol 26, Iss 4, Pp 397-401 (2003)
Genetics and Molecular Biology, Volume: 26, Issue: 4, Pages: 397-401, Published: DEC 2003
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGSمصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, lcsh:QH426-470, von Willebrand factor, Biology, law.invention, Von Willebrand factor, law, hemic and lymphatic diseases, Internal medicine, Genotype, Genetics, medicine, Von Willebrand disease, genetics, Allele, Molecular Biology, Gene, Allele frequency, Polymerase chain reaction, Polimorfismo, VWf [Von Willebrand factor], promoter polymorphisms, Promoter, medicine.disease, Genética, lcsh:Genetics, Endocrinology, Immunology, biology.protein, von Willebrand disease, circulatory and respiratory physiology
وصف الملف: text/html; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7859e4cdf3b1fc1f03302152c5987eaTest
https://doi.org/10.1590/s1415-47572003000400001Test -
5
المؤلفون: Bertha Ibarra, Josefina Yoaly Sánchez-López, Francisco J. Perea, Ana Luisa Camacho-Torres, Jesús A. Tintos
المصدر: Genetics and Molecular Biology
مصطلحات موضوعية: Genetics, AE1 protein, biology, Short Communication, SLC4A1 gene, medicine.disease, Molecular biology, band 3, DNA sequencing, Hereditary spherocytosis, Frameshift mutation, Exon, Mutation (genetic algorithm), Human and Medical Genetics, medicine, biology.protein, hereditary spherocytosis, Molecular Biology, Band 3, Gene, hemolytic anemia, Heteroduplex
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0767370e0bc0306d754eb1a849e5709Test
https://pubmed.ncbi.nlm.nih.gov/21637597Test
