المؤلفون: Falco M, Amabile S, Acquaviva F

المصدر: The Application of Clinical Genetics, Vol Volume 10, Pp 85-94 (2017)

مصطلحات موضوعية: RAI1, Smith-Magenis Syndrome, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.dovepress.com/rai1-gene-mutations-mechanisms-of-smith-magenis-syndrome-peer-reviewed-article-TACG; https://doaj.org/toc/1178-704X

URL الوصول: https://doaj.org/article/158782378d854499b103daefa9acd89b

المؤلفون: Cesana, M., Vaccaro, L., Larsen, M. J., Kibæk, M., Micale, L., Riccardo, S., Annunziata, P., Colantuono, C., Di Filippo, L., De Brasi, D., Castori, M., Fagerberg, C., Acquaviva, F., Cacchiarelli, D.

المصدر: Cesana , M , Vaccaro , L , Larsen , M J , Kibæk , M , Micale , L , Riccardo , S , Annunziata , P , Colantuono , C , Di Filippo , L , De Brasi , D , Castori , M , Fagerberg , C , Acquaviva , F & Cacchiarelli , D 2023 , ' Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association ' , Human Genetics , vol. 142 , no. 3 , pp. 343-350 . https://doi.org/10.1007/s00439-022-02497-y

مصطلحات موضوعية: Autism Spectrum Disorder/genetics, Exome, Frameshift Mutation, Gene Expression Profiling, Humans, Intracellular Signaling Peptides and Proteins/genetics, Neurodevelopmental Disorders/genetics, Protein Serine-Threonine Kinases/genetics

وصف الملف: application/pdf

Relation: https://portal.findresearcher.sdu.dk/da/publications/294b9ca5-2498-40b0-8b0f-53e22aee8a20

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/294b9ca5-2498-40b0-8b0f-53e22aee8a20
https://doi.org/10.1007/s00439-022-02497-y
https://findresearcher.sdu.dk/ws/files/220296652/s00439_022_02497_y.pdf

المؤلفون: Dalla Vedova M. D. L., Maggiore P., Berri P. C., Acquaviva F.

المساهمون: Dalla Vedova, M. D. L., Maggiore, P., Berri, P. C., Acquaviva, F.

مصطلحات موضوعية: Dry Friction, EHA, Lumped parameters, Simplified numerical model

وصف الملف: ELETTRONICO

Relation: ispartofbook:Journal of Physics: Conference Series; 4th International Conference on Applied Physics, Simulation and Computing, APSAC 2020; volume:1603; firstpage:1; lastpage:6; numberofpages:6; journal:JOURNAL OF PHYSICS. CONFERENCE SERIES; http://hdl.handle.net/11583/2855149; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85092480696; https://iopscience.iop.org/article/10.1088/1742-6596/1603/1/012017/pdf

الاتاحة: http://hdl.handle.net/11583/2855149
https://doi.org/10.1088/1742-6596/1603/1/012017
https://iopscience.iop.org/article/10.1088/1742-6596/1603/1/012017/pdf

المؤلفون: Mazzaccara C., Redi A., Albano L., Fecarotta S., Flagiello C., Crisci D., Acquaviva F., Gallo G., Nolano A., Mirra B., Pecce R., Parenti G., Villani G. R. D., Ruoppolo M., Frisso G.

المساهمون: Mazzaccara, C., Redi, A., Albano, L., Fecarotta, S., Flagiello, C., Crisci, D., Acquaviva, F., Gallo, G., Nolano, A., Mirra, B., Pecce, R., Parenti, G., Villani, G. R. D., Ruoppolo, M., Frisso, G.

مصطلحات موضوعية: screening neonatale allargato, MTHFR, analisi genetica

Relation: volume:43; issue:2; firstpage:E12; lastpage:E16; journal:BIOCHIMICA CLINICA; http://hdl.handle.net/11588/776522; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85070654711; https://www.sibioc.it/bc/download/articolo/1509

الاتاحة: http://hdl.handle.net/11588/776522
https://doi.org/10.19186/BC_2019.028
https://www.sibioc.it/bc/download/articolo/1509

المؤلفون: Paolacci S., Precone V., Acquaviva F., Chiurazzi P., Fulcheri E., Pinelli M., Buffelli F., Michelini S., Herbst K. L., Unfer V., Bertelli M.

المساهمون: Paolacci, S., Precone, V., Acquaviva, F., Chiurazzi, P., Fulcheri, E., Pinelli, M., Buffelli, F., Michelini, S., Herbst, K. L., Unfer, V., Bertelli, M.

مصطلحات موضوعية: Differential diagnosi, Genetic diagnosi, Lipedema, Lipoedema, Subcutaneous fat, Aldehyde Dehydrogenase, Databases, Factual, Histone-Lysine N-Methyltransferase, Human, Lipodystrophy, Familial Partial, Multidrug Resistance-Associated Protein, Perilipin-1, Severity of Illness Index, Trans-Activators

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/31298310; info:eu-repo/semantics/altIdentifier/wos/WOS:000478566500008; volume:23 (13); firstpage:5581; lastpage:5594; numberofpages:14; journal:EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES; http://hdl.handle.net/11567/1036662; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068958140

الاتاحة: http://hdl.handle.net/11567/1036662
https://doi.org/10.26355/eurrev_201907_18292

المؤلفون: IAFUSCO, DARIO, SACCHETTI, LUCIA, MAZZACCARA, CRISTINA, Liguori R., Ferrigno M., Libondi T., Simonelli F., Zanfardino A., Piscopo A., Pisani F., Casaburo F., Russo L., Villano P., Picariello S., Lancuba M., Forgione E., Caredda E., Iannalfo M., Pinelli M., Acquaviva F., Confetto S., Pelliccia C., Cocca A., Prisco F.

المساهمون: Iafusco D., Sacchetti L., Mazzaccara C., Liguori R., Ferrigno M., Libondi T., Simonelli F., Zanfardino A., Piscopo A., Pisani F., Casaburo F., Russo L., Villano P., Picariello S., Lancuba M., Forgione E., Caredda E., Iannalfo M., Pinelli M., Acquaviva F., Confetto S., Pelliccia C., Cocca A., Prisco F., Iafusco, Dario, Sacchetti, Lucia, Mazzaccara, Cristina, Liguori, R., Ferrigno, M., Libondi, T., Simonelli, F., Zanfardino, A., Piscopo, A., Pisani, F., Casaburo, F., Russo, L., Villano, P., Picariello, S., Lancuba, M., Forgione, E., Caredda, E., Iannalfo, M., Pinelli, M., Acquaviva, F., Confetto, S., Pelliccia, C., Cocca, A., Prisco, F.

Relation: ispartofbook:Giornate scienifiche di ateneo 2012; Giornate Scientifiche di Ateneo; http://hdl.handle.net/11588/530673

الاتاحة: http://hdl.handle.net/11588/530673

المؤلفون: Marmolino, D, Manto, M, Acquaviva, F, Vergara, P, Ravella, A, Monticelli, A, Pandolfo, M

المصدر: PloS one. 5(3):e10025

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:120283959

المؤلفون: Iafusco D, Barbetti F, Massimi A, Grasso V, Rabbone I, Casaburo F, Cocca A, Confetto S, Galderisi A, Paccone A, Picariello S, Piscopo A, Russo L, Villano P, Zanfardino A, Prisco F, Tinto N, Mazzaccara C, Pirozzi D, De Sanctis P, Pinelli M, Acquaviva F, Sacchetti L

المساهمون: Iafusco, D, Barbetti, F, Massimi, A, Grasso, V, Rabbone, I, Casaburo, F, Cocca, A, Confetto, S, Galderisi, A, Paccone, A, Picariello, S, Piscopo, A, Russo, L, Villano, P, Zanfardino, A, Prisco, F, Tinto, N, Mazzaccara, C, Pirozzi, D, De Sanctis, P, Pinelli, M, Acquaviva, F, Sacchetti, L

مصطلحات موضوعية: Settore MED/13 - ENDOCRINOLOGIA, Settore MED/03 - GENETICA MEDICA

Relation: journal:AREA PEDIATRICA; http://hdl.handle.net/2108/237722

الاتاحة: http://hdl.handle.net/2108/237722

المؤلفون: Pinelli M, Acquaviva F, Barbetti F, Caredda E, Cocozza S, Delvecchio M, Mozzillo E, Pirozzi D, Prisco F, Rabbone I, Sacchetti L, Tinto N, Toni S, Zucchini S, Italian Study Group on Diabetes of the Italian Society of Pediatric Endocrinology, Diabetology, IAFUSCO, Dario

المساهمون: Pinelli, M, Acquaviva, F, Barbetti, F, Caredda, E, Cocozza, S, Delvecchio, M, Mozzillo, E, Pirozzi, D, Prisco, F, Rabbone, I, Sacchetti, L, Tinto, N, Toni, S, Zucchini, S, Iafusco, Dario, Italian Study Group on Diabetes of the Italian Society of Pediatric, Endocrinology, Diabetology

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000327221600161; volume:8; issue:11; firstpage:1; lastpage:8; numberofpages:8; journal:PLOS ONE; http://hdl.handle.net/11591/321143; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84893167071

الاتاحة: http://hdl.handle.net/11591/321143

المؤلفون: Castaldo, I, Pinelli, M, Monticelli, A, Acquaviva, F, Giacchetti, M, Filla, A, Sacchetti, S, Keller, S, Avvedimento, V E, Chiariotti, L, Cocozza, S

مصطلحات موضوعية: Original articles

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/45/12/808; http://dx.doi.org/10.1136/jmg.2008.058594

الاتاحة: http://jmg.bmj.com/cgi/content/short/45/12/808
https://doi.org/10.1136/jmg.2008.058594

المؤلفون: Acquaviva F, Nunez Vicencio A, Di Paola D, De Schutter B., RIZZO, Alessandro

المساهمون: Acquaviva, F, Nunez Vicencio, A, Di Paola, D, Rizzo, Alessandro, De Schutter, B.

Relation: info:eu-repo/semantics/altIdentifier/isbn/9781467365956; info:eu-repo/semantics/altIdentifier/wos/WOS:000376668802148; ispartofbook:IEEE Conference on Intelligent Transportation Systems, Proceedings, ITSC; 18th IEEE International Conference on Intelligent Transportation Systems, ITSC 2015; firstpage:2849; lastpage:2854; numberofpages:6; journal:PROCEEDINGS IEEE CONFERENCE ON INTELLIGENT TRANSPORTATION SYSTEMS; http://hdl.handle.net/11589/22901; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84950303078

الاتاحة: http://hdl.handle.net/11589/22901
https://doi.org/10.1109/ITSC.2015.458

المؤلفون: Paolacci, S, Precone, V, Acquaviva, F, Chiurazzi, Pietro, Fulcheri, E, Pinelli, M, Buffelli, F, Michelini, S, Herbst, Kl, Unfer, V, Bertelli, M, Chiurazzi, P (ORCID:0000-0001-5104-1521)

مصطلحات الفهرس: Lipedema, Lipoedema, Differential diagnosis, Subcutaneous fat, Genetic diagnosis, Settore MED/03 - GENETICA MEDICA, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10807/170694
info:eu-repo/semantics/altIdentifier/pmid/31298310
info:eu-repo/semantics/altIdentifier/wos/WOS:000478566500008
volume:23
issue:13
firstpage:5581
lastpage:5594
numberofpages:14
issueyear:2019
journal:EUROPEAN REVIEW FOR MEDICAL AND PHARMACOLOGICAL SCIENCES

المؤلفون: Lonardo, F., Lonardo, M.S., Acquaviva, F., Della Monica, M., Scarano, F., Scarano, G.

المصدر: Clinical Genetics ; volume 95, issue 2, page 253-261 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.13127
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fcge.13127
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13127

المؤلفون: Kopman V, Laut J, Acquaviva F, RIZZO, ALESSANDRO, Porfiri M.

المساهمون: Kopman, V, Laut, J, Acquaviva, F, Rizzo, Alessandro, Porfiri, M.

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000335377800040; ispartofbook:Proceedings of the 2013 ASME Dynamic Systems and Control Conference; 2013 ASME Dynamic Systems and Control Conference; numberofpages:9; http://hdl.handle.net/11583/2625863; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84902522021; http://proceedings.asmedigitalcollection.asme.org/proceeding.aspx?articleid=1841123

الاتاحة: http://hdl.handle.net/11583/2625863
https://doi.org/10.1115/DSCC2013-3787
http://proceedings.asmedigitalcollection.asme.org/proceeding.aspx?articleid=1841123

المؤلفون: Kopman V, Laut J, Acquaviva F, Porfiri M., RIZZO, Alessandro

المساهمون: Kopman, V, Laut, J, Acquaviva, F, Rizzo, Alessandro, Porfiri, M.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000347971400019; volume:40; issue:1; firstpage:209; lastpage:221; numberofpages:13; journal:IEEE JOURNAL OF OCEANIC ENGINEERING; http://hdl.handle.net/11589/8150; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84920943231

الاتاحة: http://hdl.handle.net/11589/8150
https://doi.org/10.1109/JOE.2013.2294891

المؤلفون: Fontana, P., Grasso, M., Acquaviva, F., Gennaro, E., Galli, M.L., Falco, M., Scarano, F., Scarano, G., Lonardo, F.

المصدر: Clinical Genetics ; volume 92, issue 4, page 440-443 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.13005
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fcge.13005
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13005

المؤلفون: Lonardo F, Di Natale P, Lualdi S, Acquaviva F, Cuoco C, Scarano F, Maioli M, Di Gregorio G, Filocamo M, Scarano G., PAVONE, LUIGI MICHELE

المساهمون: Lonardo, F, Di Natale, P, Lualdi, S, Acquaviva, F, Cuoco, C, Scarano, F, Maioli, M, Pavone, LUIGI MICHELE, Di Gregorio, G, Filocamo, M, Scarano, G.

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000342279600033; volume:164; issue:10; firstpage:2627; lastpage:2632; numberofpages:6; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11588/588384; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84908235215

الاتاحة: http://hdl.handle.net/11588/588384
https://doi.org/10.1002/ajmg.a.36667

المؤلفون: Pinelli, M, Acquaviva, F, Caredda, E, Cocozza, S, Delvecchio, M, Mozzillo, E, Pirozzi, D, Prisco, F, Rabbone, I, Sacchetti, L, Tinto, N, Toni, S, Zucchini, S, Iafusco, D., BARBETTI, FABRIZIO

المساهمون: Pinelli, M, Acquaviva, F, Barbetti, F, Caredda, E, Cocozza, S, Delvecchio, M, Mozzillo, E, Pirozzi, D, Prisco, F, Rabbone, I, Sacchetti, L, Tinto, N, Toni, S, Zucchini, S, Iafusco, D

مصطلحات موضوعية: Settore MED/13 - ENDOCRINOLOGIA

Relation: journal:PLOS ONE; http://hdl.handle.net/2108/95190; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84893167071

الاتاحة: http://hdl.handle.net/2108/95190

المؤلفون: Della Monica M, Galzerano D, Di Michele S, Acquaviva F, Gregorio G, Lonardo F, Sguazzo F, Scarano F, Scarano G., LAMA, Diana

المساهمون: Della Monica, M, Galzerano, D, Di Michele, S, Acquaviva, F, Gregorio, G, Lonardo, F, Sguazzo, F, Scarano, F, Lama, Diana, Scarano, G.

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000328137500030; firstpage:2920; lastpage:2929; numberofpages:10; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11591/181336; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84886283610

الاتاحة: http://hdl.handle.net/11591/181336

المؤلفون: De Biase I., Acquaviva F., Iodice L., Pianese L., Monticelli A., Criscuolo C., Ruggero G., TURANO, MIMMO, ACQUAVIVA, ANGELA MARIA, GARBI, CORRADO, COCOZZA, SERGIO

المساهمون: De Biase, I., Acquaviva, F., Iodice, L., Turano, Mimmo, Pianese, L., Monticelli, A., Criscuolo, C., Ruggero, G., Acquaviva, ANGELA MARIA, Garbi, Corrado, Cocozza, Sergio

وصف الملف: STAMPA

Relation: The 3rd International Conference Unstable Microsatellites and Human Disease; firstpage:15; lastpage:15; http://hdl.handle.net/11588/305418

الاتاحة: http://hdl.handle.net/11588/305418