يعرض 1 - 10 نتائج من 551 نتيجة بحث عن '"STRISCIUGLIO, PIETRO"', وقت الاستعلام: 0.85s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome

    المؤلفون: Serpieri, Valentina, Mortarini, Giulia, Loucks, Hailey, Biagini, Tommaso, Micalizzi, Alessia, Palmieri, Ilaria, Dempsey, Jennifer C, D'Abrusco, Fulvio, Mazzotta, Concetta, Battini, Roberta, Bertini, Enrico Silvio, Boltshauser, Eugen, Borgatti, Renato, Brockmann, Knut, D'Arrigo, Stefano, Nardocci, Nardo, Fischetto, Rita, Agolini, Emanuele, Novelli, Antonio, Romano, Alfonso, Romaniello, Romina, Stanzial, Franco, Signorini, Sabrina, Strisciuglio, Pietro, Gana, Simone, Mazza, Tommaso, Doherty, Dan, Valente, Enza Maria

    المساهمون: Serpieri, Valentina, Mortarini, Giulia, Loucks, Hailey, Biagini, Tommaso, Micalizzi, Alessia, Palmieri, Ilaria, Dempsey, Jennifer C, D'Abrusco, Fulvio, Mazzotta, Concetta, Battini, Roberta, Bertini, Enrico Silvio, Boltshauser, Eugen, Borgatti, Renato, Brockmann, Knut, D'Arrigo, Stefano, Nardocci, Nardo, Fischetto, Rita, Agolini, Emanuele, Novelli, Antonio, Romano, Alfonso, Romaniello, Romina, Stanzial, Franco, Signorini, Sabrina, Strisciuglio, Pietro, Gana, Simone, Mazza, Tommaso, Doherty, Dan, Valente, Enza Maria

    مصطلحات موضوعية: Cerebellar Disease, Founder Effect, Gene Frequency, Genetic Carrier Screening, Genotype

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36788019; info:eu-repo/semantics/altIdentifier/wos/WOS:000935563200001; numberofpages:14; journal:JOURNAL OF MEDICAL GENETICS; https://hdl.handle.net/11568/1170047Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85159312262; https://jmg.bmj.com/content/60/9/885Test

    الإتاحة: https://doi.org/10.1136/jmg-2022-108725Test
    https://hdl.handle.net/11568/1170047Test
    https://jmg.bmj.com/content/60/9/885Test

    View record in BASE

    أضف إلى المفضلة
  2. 2
    دورية أكاديمية
    Obstructive Sleep Apnoea in Children with Down Syndrome: A Multidisciplinary Approach

    المؤلفون: Borrelli, Melissa, Corcione, Adele, Rongo, Roberto, Cantone, Elena, Scala, Iris, Bruzzese, Dario, Martina, Stefano, Strisciuglio, Pietro, Michelotti, Ambrosina, Santamaria, Francesca

    المساهمون: Borrelli, Melissa, Corcione, Adele, Rongo, Roberto, Cantone, Elena, Scala, Iri, Bruzzese, Dario, Martina, Stefano, Strisciuglio, Pietro, Michelotti, Ambrosina, Santamaria, Francesca

    مصطلحات موضوعية: Down syndrome, ear, nose and throat examination, obstructive sleep apnoea, orthodontic evaluation, polygraphy, sleep questionnaire, sleep-disordered breathing

    العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000915660800001; volume:13; issue:1; firstpage:71; lastpage:84; numberofpages:14; journal:JOURNAL OF PERSONALIZED MEDICINE; https://hdl.handle.net/11588/915684Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85146637132; http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=85146637132&origin=inwardTest

    الإتاحة: https://doi.org/10.3390/jpm13010071Test
    https://hdl.handle.net/11588/915684Test
    http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=85146637132&origin=inwardTest;

    View record in BASE

    أضف إلى المفضلة
  3. 3
    دورية أكاديمية
    Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia

    المؤلفون: Rossi, Alessandro, Assunto, Antonia, Rosano, Carmen, Tucci, Sara, Ruoppolo, Margherita, Caterino, Marianna, Pirozzi, Francesca, Strisciuglio, Pietro, Parenti, Giancarlo, Melis, Daniela

    المصدر: Genes & nutrition. - 18, 1 (2023) , 10, ISSN: 1865-3499

    وصف الملف: pdf

    العلاقة: https://freidok.uni-freiburg.de/data/237510Test

    الإتاحة: https://doi.org/10.1186/s12263-023-00729-yTest
    https://freidok.uni-freiburg.de/data/237510Test
    https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-2375106Test
    https://freidok.uni-freiburg.de/dnb/download/237510Test

    View record in BASE

    أضف إلى المفضلة
  4. 4
    دورية أكاديمية
    An asymptomatic father diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency following his son newborn screening test

    المؤلفون: Terracciano, Rosamaria, Ruoppolo, Margherita, Barretta, Ferdinando, Albano, Lucia, Crisci, Daniela, Gallo, Giovanna, Uomo, Fabiana, Strisciuglio, Pietro, Parenti, Giancarlo, Frisso, Giulia, Rossi, Alessandro

    المساهمون: Terracciano, Rosamaria, Ruoppolo, Margherita, Barretta, Ferdinando, Albano, Lucia, Crisci, Daniela, Gallo, Giovanna, Uomo, Fabiana, Strisciuglio, Pietro, Parenti, Giancarlo, Frisso, Giulia, Rossi, Alessandro

    العلاقة: volume:40; journal:MOLECULAR GENETICS AND METABOLISM REPORTS; https://hdl.handle.net/11588/965083Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85197288018

    الإتاحة: https://doi.org/10.1016/j.ymgmr.2024.101116Test
    https://hdl.handle.net/11588/965083Test

    View record in BASE

    أضف إلى المفضلة
  5. 5
    دورية أكاديمية
    Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel

    المؤلفون: Gragnaniello, Vincenza, Deodato, Federica, Gasperini, Serena, Donati, Maria Alice, Canessa, Clementina, Fecarotta, Simona, Pascarella, Antonia, Spadaro, Giuseppe, Concolino, Daniela, Burlina, Alberto, Parenti, Giancarlo, Strisciuglio, Pietro, Fiumara, Agata, Casa, Roberto Della

    المصدر: Italian Journal of Pediatrics ; volume 48, issue 1 ; ISSN 1824-7288

    مصطلحات موضوعية: General Medicine

    الإتاحة: https://doi.org/10.1186/s13052-022-01219-4Test

    View record in BASE

    أضف إلى المفضلة
  6. 6
    دورية أكاديمية
    Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity

    المؤلفون: Ferrara, Ursula Pia, Tortora, Cristina, Rosano, Carmen, Assunto, Antonia, Rossi, Alessandro, Pagano, Stefano, Falco, Mariateresa, Simeoli, Chiara, Ferrigno, Rosario, D’Amico, Alessandra, Di Salvio, Dario, Cangemi, Giuliana, Pivonello, Rosario, Strisciuglio, Pietro, Melis, Daniela

    المصدر: Scientific Reports ; volume 12, issue 1 ; ISSN 2045-2322

    مصطلحات موضوعية: Multidisciplinary

    الإتاحة: https://doi.org/10.1038/s41598-022-07855-4Test
    https://www.nature.com/articles/s41598-022-07855-4.pdfTest
    https://www.nature.com/articles/s41598-022-07855-4Test

    View record in BASE

    أضف إلى المفضلة
  7. 7
    دورية أكاديمية
    Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues

    المؤلفون: Rossi, Alessandro, Turturo, Mariagrazia, Albano, Lucia, Fecarotta, Simona, Barretta, Ferdinando, Crisci, Daniela, Gallo, Giovanna, Perfetto, Rosa, Uomo, Fabiana, Vallone, Fabiana, Villani, Guglielmo, Strisciuglio, Pietro, Parenti, Giancarlo, Frisso, Giulia, Ruoppolo, Margherita

    المصدر: Frontiers in Pediatrics ; volume 10 ; ISSN 2296-2360

    مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

    الإتاحة: https://doi.org/10.3389/fped.2022.895921Test

    View record in BASE

    أضف إلى المفضلة
  8. 8
    دورية أكاديمية
    Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report.

    المؤلفون: Rossi, Alessandro, Miele, Erasmo, Fecarotta, Simona, Veiga da Cunha, Maria, Martinelli, Massimo, Mollica, Carmine, D'Armiento, Maria, Mozzillo, Enza, Strisciuglio, Pietro, Derks, Terry G J, Staiano, Annamaria, Parenti, Giancarlo

    المساهمون: UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique

    المصدر: Italian journal of pediatrics, Vol. 47, no.1, p. 149 (2021)

    مصطلحات موضوعية: 5-anhydroglucitol, Continuous glucose monitoring, Empagliflozin, Glycogen storage disease type Ib, Inflammatory bowel disease, Neutropenia

    الوقت: 1

    العلاقة: boreal:253253; http://hdl.handle.net/2078.1/253253Test; info:pmid/34215305; urn:ISSN:1824-7288; urn:EISSN:1824-7288

    الإتاحة: https://doi.org/10.1186/s13052-021-01100-wTest
    http://hdl.handle.net/2078.1/253253Test

    View record in BASE النص الكامل

    أضف إلى المفضلة
  9. 9
    دورية أكاديمية
    Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature

    المؤلفون: Di Candia, Francesca, Fontana, Paolo, Paglia, Pamela, Falco, Mariateresa, Rosano, Carmen, Piscopo, Carmelo, Cappuccio, Gerarda, Siano, Maria Anna, De Brasi, Daniele, Mandato, Claudia, De Maggio, Ilaria, Squeo, Gabriella Maria, Monica, Matteo Della, Scarano, Gioacchino, Lonardo, Fortunato, Strisciuglio, Pietro, Merla, Giuseppe, Melis, Daniela

    المساهمون: Università degli Studi di Salerno

    المصدر: European Journal of Pediatrics ; volume 181, issue 1, page 171-187 ; ISSN 0340-6199 1432-1076

    مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

    الإتاحة: https://doi.org/10.1007/s00431-021-04108-wTest

    View record in BASE

    أضف إلى المفضلة
  10. 10
    دورية أكاديمية
    RASopathies and hemostatic abnormalities: key role of platelet dysfunction

    المؤلفون: Di Candia, Francesca, Marchetti, Valeria, Cirillo, Ferdinando, Di Minno, Alessandro, Rosano, Carmen, Pagano, Stefano, Siano, Maria Anna, Falco, Mariateresa, Assunto, Antonia, Boccia, Giovanni, Magliacane, Gerardo, Pinna, Valentina, De Luca, Alessandro, Tartaglia, Marco, Di Minno, Giovanni, Strisciuglio, Pietro, Melis, Daniela

    المصدر: Orphanet Journal of Rare Diseases ; volume 16, issue 1 ; ISSN 1750-1172

    مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine

    الإتاحة: https://doi.org/10.1186/s13023-021-02122-7Test

    View record in BASE

    أضف إلى المفضلة
أدوات البحث: أحصل على تغذية RSS — أرسل هذا البحث بالبريد الإلكتروني — حفظ البحث