المؤلفون: Canosa, Antonio, Calvo, Andrea, Mora, Gabriele, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Borghero, Giuseppe, Caponnetto, Claudia, Trojsi, Francesca, Spataro, Rossella, Volanti, Paolo, Simone, Isabella Laura, Salvi, Fabrizio, Logullo, Francesco Ottavio, Riva, Nilo, Tremolizzo, Lucio, Giannini, Fabio, Mandrioli, Jessica, Tanel, Raffaella, Murru, Maria Rita, Mandich, Paola, Conforti, Francesca Luisa, Zollino, Marcella, Sabatelli, Mario, Tarlarini, Claudia, Lunetta, Christian, Mazzini, Letizia, D'Alfonso, Sandra, Guy, Nathalie, Meininger, Vincent, Clavelou, Pierre, Camu, William, Chiò, Adriano, On Behalf Of Italsgen Consortium, null

المساهمون: Canosa, Antonio, Calvo, Andrea, Mora, Gabriele, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Borghero, Giuseppe, Caponnetto, Claudia, Trojsi, Francesca, Spataro, Rossella, Volanti, Paolo, Simone, Isabella Laura, Salvi, Fabrizio, Logullo, Francesco Ottavio, Riva, Nilo, Tremolizzo, Lucio, Giannini, Fabio, Mandrioli, Jessica, Tanel, Raffaella, Murru, Maria Rita, Mandich, Paola, Conforti, Francesca Luisa, Zollino, Marcella, Sabatelli, Mario, Tarlarini, Claudia, Lunetta, Christian, Mazzini, Letizia, D'Alfonso, Sandra, Guy, Nathalie, Meininger, Vincent, Clavelou, Pierre, Camu, William, Chiò, Adriano, On Behalf Of Italsgen Consortium, null

مصطلحات موضوعية: HFE, SOD1, amyotrophic lateral sclerosi, p.H63D, survival

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36979682; volume:11; issue:3; firstpage:704; lastpage:708; numberofpages:5; journal:BIOMEDICINES; https://hdl.handle.net/2318/1904348Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85152963757; https://www.mdpi.com/2227-9059/11/3/704Test

الإتاحة: https://doi.org/10.3390/biomedicines11030704Test
https://hdl.handle.net/2318/1904348Test
https://www.mdpi.com/2227-9059/11/3/704Test

المؤلفون: Zollino, Marcella, Sabatelli, Mario

المساهمون: Canosa, Antonio, Calvo, Andrea, Mora, Gabriele, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Borghero, Giuseppe, Caponnetto, Claudia, Trojsi, Francesca, Spataro, Rossella, Volanti, Paolo, Simone, Isabella Laura, Salvi, Fabrizio, Logullo, Francesco Ottavio, Riva, Nilo, Tremolizzo, Lucio, Giannini, Fabio, Mandrioli, Jessica, Tanel, Raffaella, Murru, Maria Rita, Mandich, Paola, Conforti, Francesca Luisa, Zollino, Marcella, Sabatelli, Mario, Tarlarini, Claudia, Lunetta, Christian, Mazzini, Letizia, D'Alfonso, Sandra, Guy, Nathalie, Meininger, Vincent, Clavelou, Pierre, Camu, William, Chiò, Adriano, On Behalf Of Italsgen Consortium, Null

مصطلحات موضوعية: HFE, SOD1, amyotrophic lateral sclerosis, p.H63D, survival, Settore MED/03 - GENETICA MEDICA, Settore MED/26 - NEUROLOGIA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36979682; info:eu-repo/semantics/altIdentifier/wos/WOS:000962888300001; volume:11; issue:3; firstpage:704; lastpage:N/A; issueyear:2023; journal:BIOMEDICINES; https://hdl.handle.net/10807/242675Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85152963757

الإتاحة: https://doi.org/10.3390/biomedicines11030704Test
https://hdl.handle.net/10807/242675Test

المؤلفون: Antonio Canosa, Andrea Calvo, Gabriele Mora, Cristina Moglia, Maura Brunetti, Marco Barberis, Giuseppe Borghero, Claudia Caponnetto, Francesca Trojsi, Rossella Spataro, Paolo Volanti, Isabella Laura Simone, Fabrizio Salvi, Francesco Ottavio Logullo, Nilo Riva, Lucio Tremolizzo, Fabio Giannini, Jessica Mandrioli, Raffaella Tanel, Maria Rita Murru, Paola Mandich, Francesca Luisa Conforti, Marcella Zollino, Mario Sabatelli, Claudia Tarlarini, Christian Lunetta, Letizia Mazzini, Sandra D’Alfonso, Nathalie Guy, Vincent Meininger, Pierre Clavelou, William Camu, Adriano Chiò, on behalf of ITALSGEN Consortium on behalf of ITALSGEN Consortium

المصدر: Biomedicines; Volume 11; Issue 3; Pages: 704

مصطلحات موضوعية: amyotrophic lateral sclerosis, SOD1, HFE, p.H63D, survival

وصف الملف: application/pdf

العلاقة: Neurobiology and Neurologic Disease; https://dx.doi.org/10.3390/biomedicines11030704Test

الإتاحة: https://doi.org/10.3390/biomedicines11030704Test

المؤلفون: Yunus Kasım Terzi, Tuğçe Bulakbaşı Balcı, Can Boğa, Zafer Koç, Zerrin Yılmaz Çelik, Hakan Özdoğu, Sema Karakuş, Feride İffet Şahin

المصدر: Turkish Journal of Hematology, Vol 33, Iss 4, Pp 320-325 (2016)

مصطلحات موضوعية: hemochromatosis, hfe gene, iron overload, p.c282y, p.h63d, sickle cell anemia, Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

العلاقة: https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjh&un=TJH-87533Test; https://doaj.org/toc/1308-5263Test

الوصول الحر: https://doaj.org/article/4e00c686b20146568782a01414689f4dTest

المؤلفون: Terzi, Yunus Kasim, Balci, Tugce Bulakbasi, Boga, Can, Koc, Zafer, Celik, Zerrin Yilmaz, Ozdogu, Hakan, Karakus, Sema, Sahin, Feride Iffet

مصطلحات موضوعية: Hemochromatosis, HFE gene, Iron overload, p.C282Y, p.H63D, Sickle cell anemia

وصف الملف: application/pdf

العلاقة: TURKISH JOURNAL OF HEMATOLOGY; https://www.journalagent.com/tjh/pdfs/TJH_33_4_320_325.pdfTest; http://hdl.handle.net/11727/3611Test; 33; 320; 325; 000392282500009

الإتاحة: http://hdl.handle.net/11727/3611Test
https://www.journalagent.com/tjh/pdfs/TJH_33_4_320_325.pdfTest

المؤلفون: Feride Iffet Sahin, Tugce B. Balci, Zafer Koc, Zerrin Yılmaz Çelik, Sema Karakus, Can Boga, Hakan Ozdogu, Yunus Kasim Terzi

المصدر: Turkish Journal of Hematology, Vol 33, Iss 4, Pp 320-325 (2016)
Turkish Journal of Hematology
Paediatrics Publications

مصطلحات موضوعية: Male, DNA Mutational Analysis, Hemoglobin, Sickle, 030204 cardiovascular system & hematology, Group A, Gastroenterology, 030218 nuclear medicine & medical imaging, 0302 clinical medicine, Gene Frequency, Genotype, Iron overload, Prospective Studies, p.C282Y, Genetics, Homozygote, lcsh:Diseases of the blood and blood-forming organs, Hematology, Magnetic Resonance Imaging, Sickle cell anemia, Hemoglobinopathy, Liver, Hereditary hemochromatosis, Female, Hemochromatosis, HFE gene, Research Article, Adult, lcsh:Internal medicine, medicine.medical_specialty, P.H63D, Anemia, Sickle Cell, Young Adult, 03 medical and health sciences, Internal medicine, medicine, Humans, Chelation therapy, Codon, Hemochromatosis Protein, lcsh:RC31-1245, Alleles, P.C282Y, lcsh:RC633-647.5, business.industry, medicine.disease, Cross-Sectional Studies, Amino Acid Substitution, Mutation, p.H63D, Hemoglobin, business, Biomarkers

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c48505aa5ff33ebd53c09506f17950b6Test
https://doi.org/10.4274/tjh.2015.0254Test

المؤلفون: Colombo, Federico Pablo, Martinez, Javier, Varela, Laura Sabina, Gerez, Esther Noemi, Mendez, Manuel, Batlle, Alcira Maria del C., Rossetti, Maria Victoria, Parera, Victoria Estela

المصدر: CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET

مصطلحات موضوعية: Medicina Básica, CIENCIAS MÉDICAS Y DE LA SALUD, PORPHYRIA CUTANEA TARDA (PCT), FAMILIAL PCT, HEREDITARY HEMOCHROMATOSIS, Genética Humana, P.C282Y MUTATION, SPORADIC PCT, purl.org/becyt/ford/3 [https], purl.org/becyt/ford/3.1 [https], P.H63D MUTATION

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::13642777f5623cc8dd44be448ee68d8aTest
http://www.sciencedomain.org/abstract/2851Test

المؤلفون: Toste, Sandra de Fátima Gomes

المساهمون: Abade, Augusto Manuel Elias, Manco, Licínio Manuel Mendes

المصدر: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

مصطلحات موضوعية: África, Portugal, SNP, Hemocromatose Hereditária, p.H63D, Sobrecarga de ferro, Haplótipo, HFE, p.C282Y, p.S65C

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ebcbf23531580e34d0f58db2b76b40fcTest

المؤلفون: Colombo, Federico Pablo, Martinez, Javier, Varela, Laura Sabina, Gerez, Esther Noemi, Mendez, Manuel, Batlle, Alcira Maria del C., Rossetti, Maria Victoria, Parera, Victoria Estela

مصطلحات موضوعية: PORPHYRIA CUTANEA TARDA (PCT), SPORADIC PCT, FAMILIAL PCT, HEREDITARY HEMOCHROMATOSIS, P.C282Y MUTATION, P.H63D MUTATION, https://purl.org/becyt/ford/3.1Test, https://purl.org/becyt/ford/3Test

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/url/http://www.sciencedomain.org/abstract/2851Test; info:eu-repo/semantics/altIdentifier/url/https://doi.org/10.9734/BJMMR/2014/7303Test; http://hdl.handle.net/11336/7786Test; Colombo, Federico Pablo; Martinez, Javier; Varela, Laura Sabina; Gerez, Esther Noemi; Mendez, Manuel; et al.; Porphyria Cutanea Tarda and HFE Gene Mutations in Argentina; Science Domain International; British journal of Medicine and Medical Research; 4; 8; 1-2014; 1691-1700

الإتاحة: https://doi.org/10.9734/BJMMR/2014/7303Test
http://hdl.handle.net/11336/7786Test

مصطلحات الفهرس: HFE, SOD1, amyotrophic lateral sclerosis, p.H63D, survival, Settore MED/03 - GENETICA MEDICA, Settore MED/26 - NEUROLOGIA, info:eu-repo/semantics/article

URL: https://hdl.handle.net/10807/242675Test
info:eu-repo/semantics/altIdentifier/pmid/36979682
info:eu-repo/semantics/altIdentifier/wos/WOS:000962888300001
volume:11
issue:3
firstpage:704
lastpage:N/A
issueyear:2023
journal:BIOMEDICINES