المؤلفون: Maria Donata Di Taranto, Giuliana Fortunato

المساهمون: DI TARANTO, MARIA DONATA, Fortunato, Giuliana

مصطلحات موضوعية: FH phenocopie, familial hypercholesterolemia, genetic heterogeneity, genetic, modifier factor, molecular diagnosi, oligogenic FH, phenotypic variability, polygenic risk score

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000944927600001; volume:24; issue:4; firstpage:3224; numberofpages:14; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/11588/914021Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85149007228; https://www.mdpi.com/1422-0067/24/4/3224Test

الإتاحة: https://doi.org/10.3390/ijms24043224Test
https://hdl.handle.net/11588/914021Test
https://www.mdpi.com/1422-0067/24/4/3224Test

المؤلفون: Alieva, Asiiat, Di Costanzo, Alessia, Gazzotti, Marta, Reutova, Olga, Usova, Elena, Bakaleiko, Viktoria, Arca, Marcello, D'Erasmo, Laura, Pellegatta, Fabio, Galimberti, Federica, Olmastroni, Elena, Catapano, Alberico L, Casula, Manuela

المساهمون: Alieva, Asiiat, Di Costanzo, Alessia, Gazzotti, Marta, Reutova, Olga, Usova, Elena, Bakaleiko, Viktoria, Arca, Marcello, D'Erasmo, Laura, Pellegatta, Fabio, Galimberti, Federica, Olmastroni, Elena, Catapano, Alberico L, Casula, Manuela

مصطلحات موضوعية: Familial hypercholesterolemia, Genetic heterogeneity, Molecular diagnosi, Phenotypic expression, Variants of uncertain clinical significance

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38245461; firstpage:1; lastpage:7; numberofpages:7; journal:EUROPEAN JOURNAL OF INTERNAL MEDICINE; https://hdl.handle.net/11573/1704453Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85183545444

الإتاحة: https://doi.org/10.1016/j.ejim.2024.01.010Test
https://hdl.handle.net/11573/1704453Test

المؤلفون: Olivucci, Giulia, Iovino, Emanuela, Innella, Giovanni, Turchetti, Daniela, Pippucci, Tommaso, Magini, Pamela

المساهمون: Olivucci, Giulia, Iovino, Emanuela, Innella, Giovanni, Turchetti, Daniela, Pippucci, Tommaso, Magini, Pamela

مصطلحات موضوعية: RNA sequencing, genetic disease, long read sequencing, methylation, molecular diagnosi, single nucleotide variant, structural variant, tandem repeats

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38510277; volume:15; firstpage:-; lastpage:-; numberofpages:-; journal:FRONTIERS IN GENETICS; https://hdl.handle.net/11585/966618Test

الإتاحة: https://doi.org/10.3389/fgene.2024.1374860Test
https://hdl.handle.net/11585/966618Test

المؤلفون: Morgan A., Faletra F., Severi G., La Bianca M., Licchetta L., Gasparini P., Graziano C., Girotto G.

المساهمون: Morgan, A., Faletra, F., Severi, G., La Bianca, M., Licchetta, L., Gasparini, P., Graziano, C., Girotto, G.

مصطلحات موضوعية: Dual molecular diagnosi, Hereditary hearing lo, Whole-exome sequencing

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35052694; info:eu-repo/semantics/altIdentifier/wos/WOS:000749799600001; volume:10; issue:1; firstpage:"-"; lastpage:"-"; numberofpages:12; journal:BIOMEDICINES; http://hdl.handle.net/11368/3010905Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85122270055; https://www.mdpi.com/2227-9059/10/1/12Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8773038Test/

الإتاحة: https://doi.org/10.3390/biomedicines10010012Test
http://hdl.handle.net/11368/3010905Test
https://www.mdpi.com/2227-9059/10/1/12Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8773038Test/

المؤلفون: Spedicati, Beatrice, Morgan, Anna, Pianigiani, Giulia, Musante, Luciana, Rubinato, Elisa, Santin, Aurora, Nardone, Giuseppe Giovanni, Faletra, Flavio, Girotto, Giorgia

المساهمون: Spedicati, Beatrice, Morgan, Anna, Pianigiani, Giulia, Musante, Luciana, Rubinato, Elisa, Santin, Aurora, Nardone, Giuseppe Giovanni, Faletra, Flavio, Girotto, Giorgia

مصطلحات موضوعية: Dual molecular diagnosi, Multilocus genomic variation, Whole Exome Sequencing

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36360260; info:eu-repo/semantics/altIdentifier/wos/WOS:000882671900001; volume:13; issue:11; firstpage:"-"; lastpage:"-"; numberofpages:15; journal:GENES; https://hdl.handle.net/11368/3034240Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85141586317; https://www.mdpi.com/2073-4425/13/11/2023Test

الإتاحة: https://doi.org/10.3390/genes13112023Test
https://hdl.handle.net/11368/3034240Test
https://www.mdpi.com/2073-4425/13/11/2023Test

المؤلفون: Olmastroni Elena, Gazzotti Marta, Arca Marcello, Averna Maurizio, Pirillo Angela, Catapano Alberico Luigi, Casula Manuela, Members of the Lipigen Study Group, Benso Andrea

المساهمون: Olmastroni Elena, Gazzotti Marta, Arca Marcello, Averna Maurizio, Pirillo Angela, Catapano Alberico Luigi, Casula Manuela, Members of the Lipigen Study Group, Benso Andrea

مصطلحات موضوعية: familial hypercholesterolemia, molecular diagnosi, polygenic risk score

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000778262600030; volume:11; issue:7; firstpage:e023668; lastpage:10; numberofpages:10; journal:JOURNAL OF THE AMERICAN HEART ASSOCIATION. CARDIOVASCULAR AND CEREBROVASCULAR DISEASE; https://hdl.handle.net/2318/1893582Test

الإتاحة: https://doi.org/10.1161/JAHA.121.023668Test
https://hdl.handle.net/2318/1893582Test

المؤلفون: Visco, Vincenzo, Lippi, Maria Enrichetta, Salerno, Gerardo, Licata, Maria Angela Vittoria A C, de Dominicis, Chiara, Antolino, Giusy, La Verde, Giacinto, Santino, Iolanda, Simmaco, Maurizio, Sciacchitano, Salvatore

المساهمون: Visco, Vincenzo, Lippi, Maria Enrichetta, Salerno, Gerardo, Licata, Maria Angela Vittoria A C, de Dominicis, Chiara, Antolino, Giusy, La Verde, Giacinto, Santino, Iolanda, Simmaco, Maurizio, Sciacchitano, Salvatore

مصطلحات موضوعية: CLL, CLL infection, antibodie, molecular diagnosi, virology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35323177; info:eu-repo/semantics/altIdentifier/wos/WOS:000775325900001; volume:14; issue:1; firstpage:31; lastpage:37; numberofpages:7; journal:HEMATOLOGY REPORTS; http://hdl.handle.net/11573/1627837Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85128776007

الإتاحة: https://doi.org/10.3390/hematolrep14010006Test
http://hdl.handle.net/11573/1627837Test

المؤلفون: Zabek O., Lamprakis I., Rickmann A., Calzetti G., Gyorgy B., Scholl H. P. N., della Volpe Waizel M.

المساهمون: Zabek, O., Lamprakis, I., Rickmann, A., Calzetti, G., Gyorgy, B., Scholl, H. P. N., della Volpe Waizel, M.

مصطلحات موضوعية: Molecular diagnosi, Occult macular dystrophy, Pathogenic variant, RP1L1 gene, Switzerland

العلاقة: volume:26; firstpage:101527; journal:AMERICAN JOURNAL OF OPHTHALMOLOGY. CASE REPORTS; http://hdl.handle.net/11381/2922028Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85128181385

الإتاحة: https://doi.org/10.1016/j.ajoc.2022.101527Test
http://hdl.handle.net/11381/2922028Test

المؤلفون: Antonino Pace, Nadia Vicari, Sara Rigamonti, Simone Magnino, Luca Borrelli, Ludovico Dipineto, Alessandro Fioretti, Sandra Hochscheid, Lu('(i))s Tavares, Ana Duarte

المساهمون: Pace, Antonino, Vicari, Nadia, Rigamonti, Sara, Magnino, Simone, Borrelli, Luca, Dipineto, Ludovico, Fioretti, Alessandro, Hochscheid, Sandra, Tavares, Lu('(i)), Duarte, Ana

مصطلحات موضوعية: C. pneumoniae, C. psittaci, Caretta caretta, Chlamydia spp, Mediterranean Sea, chlamydia-like organism, molecular diagnosi, zoonosis

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000776963300001; volume:12; issue:6; firstpage:715; journal:ANIMALS; http://hdl.handle.net/11588/896437Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85126278004

الإتاحة: https://doi.org/10.3390/ani12060715Test
http://hdl.handle.net/11588/896437Test

المؤلفون: Colagrossi L., Costabile V., Scutari R., Cento V., Coltella L., Reale A., Scilipoti M., Villani A., Alteri C., Perno C. F., Russo C.

المساهمون: L. Colagrossi, V. Costabile, R. Scutari, V. Cento, L. Coltella, A. Reale, M. Scilipoti, A. Villani, C. Alteri, C.F. Perno, C. Russo

مصطلحات موضوعية: comparative diagnostic accuracy, COVID-19, molecular diagnosi, RT-PCR testing, SARS-CoV-2, Settore MED/07 - Microbiologia e Microbiologia Clinica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36406396; info:eu-repo/semantics/altIdentifier/wos/WOS:000886334700001; volume:13; firstpage:1; lastpage:9; numberofpages:9; journal:FRONTIERS IN MICROBIOLOGY; https://hdl.handle.net/2434/999848Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85142149243

الإتاحة: https://doi.org/10.3389/fmicb.2022.999783Test
https://hdl.handle.net/2434/999848Test