يعرض 1 - 10 نتائج من 190 نتيجة بحث عن '"TINTO, NADIA"', وقت الاستعلام: 0.99s تنقيح النتائج
  1. 1
    دورية أكاديمية
    The changing landscape of neonatal diabetes mellitus in Italy between 2003-2022

    المؤلفون: Rapini, Novella, Delvecchio, Maurizio, Mucciolo, Mafalda, Ruta, Rosario, Rabbone, Ivana, Cherubini, Valentino, Zucchini, Stefano, Cianfarani, Stefano, Prandi, Elena, Schiaffini, Riccardo, Bizzarri, Carla, Piccini, Barbara, Maltoni, Giulio, Predieri, Barbara, Minuto, Nicola, Di Paola, Rossella, Giordano, Mara, Tinto, Nadia, Grasso, Valeria, Russo, Lucia, Tiberi, Valentina, Scaramuzza, Andrea, Frontino, Giulio, Maggio, Maria Cristina, Musolino, Gianluca, Piccinno, Elvira, Tinti, Davide, Carrera, Paola, Mozzillo, Enza, Cappa, Marco, Iafusco, Dario, Bonfanti, Riccardo, Novelli, Antonio, Barbetti, Fabrizio

    المساهمون: Rapini, Novella, Delvecchio, Maurizio, Mucciolo, Mafalda, Ruta, Rosario, Rabbone, Ivana, Cherubini, Valentino, Zucchini, Stefano, Cianfarani, Stefano, Prandi, Elena, Schiaffini, Riccardo, Bizzarri, Carla, Piccini, Barbara, Maltoni, Giulio, Predieri, Barbara, Minuto, Nicola, Di Paola, Rossella, Giordano, Mara, Tinto, Nadia, Grasso, Valeria, Russo, Lucia, Tiberi, Valentina, Scaramuzza, Andrea, Frontino, Giulio, Maggio, Maria Cristina, Musolino, Gianluca, Piccinno, Elvira, Tinti, Davide, Carrera, Paola, Mozzillo, Enza, Cappa, Marco, Iafusco, Dario, Bonfanti, Riccardo, Novelli, Antonio, Barbetti, Fabrizio

    مصطلحات موضوعية: Autoimmune Neonatal Diabetes Mellitus, Congenital Severe Insulin Resistance, Molecular Genetics, Monogenic Diabetes, Neonatal Diabetes Mellitus

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38408297; info:eu-repo/semantics/altIdentifier/wos/WOS:001180652800001; numberofpages:9; journal:THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM; https://hdl.handle.net/20.500.11768/160457Test

    الإتاحة: https://doi.org/20.500.11768/16045710.1210/clinem/dgae095Test
    https://hdl.handle.net/20.500.11768/160457Test

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  2. 2
    دورية أكاديمية
    An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment

    المؤلفون: Di Candia, Francesca, Di Iorio, Valentina, Tinto, Nadia, Bonfanti, Riccardo, Iovino, Claudio, Rosanio, Francesco Maria, Fedi, Ludovica, Iafusco, Fernanda, Arrigoni, Francesca, Malesci, Rita, Simonelli, Francesca, Rigamonti, Andrea, Franzese, Adriana, Mozzillo, Enza

    المساهمون: Di Candia, Francesca, Di Iorio, Valentina, Tinto, Nadia, Bonfanti, Riccardo, Iovino, Claudio, Rosanio, Francesco Maria, Fedi, Ludovica, Iafusco, Fernanda, Arrigoni, Francesca, Malesci, Rita, Simonelli, Francesca, Rigamonti, Andrea, Franzese, Adriana, Mozzillo, Enza

    مصطلحات موضوعية: Case series, Nonautoimmune diabetes, Optic atrophy, Sensorineural deafness, Thiamine-responsive megaloblastic anemia syndrome

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38037112; info:eu-repo/semantics/altIdentifier/wos/WOS:001111391700001; volume:49; issue:1; numberofpages:8; journal:THE ITALIAN JOURNAL OF PEDIATRICS; https://hdl.handle.net/20.500.11768/153936Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85178219283; https://ijponline.biomedcentral.com/articles/10.1186/s13052-023-01553-1Test

    الإتاحة: https://doi.org/20.500.11768/153936Test
    https://doi.org/10.1186/s13052-023-01553-1Test
    https://hdl.handle.net/20.500.11768/153936Test

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  3. 3
    دورية أكاديمية
    Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method

    المؤلفون: Barretta, Ferdinando, Uomo, Fabiana, Caldora, Filomena, Mocerino, Rossella, Adamo, Daniela, Testa, Francesco, Simonelli, Francesca, Scudiero, Olga, Tinto, Nadia, Frisso, Giulia, Mazzaccara, Cristina

    المساهمون: Barretta, Ferdinando, Uomo, Fabiana, Caldora, Filomena, Mocerino, Rossella, Adamo, Daniela, Testa, Francesco, Simonelli, Francesca, Scudiero, Olga, Tinto, Nadia, Frisso, Giulia, Mazzaccara, Cristina

    مصطلحات موضوعية: MITO-NUCLEAR, combined sequencing of mitochondrial and nuclear DNA, mitochondrial and nuclear disease panel, mitochondrial disease, mtDNA, next-generation sequencing (NGS), nuclear genes

    العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000998167800001; volume:14; issue:5; firstpage:1087; numberofpages:13; journal:GENES; https://hdl.handle.net/11588/922603Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85160372712

    الإتاحة: https://doi.org/10.3390/genes14051087Test
    https://hdl.handle.net/11588/922603Test

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  4. 4
    دورية أكاديمية
    Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes

    المؤلفون: Mazzaccara, Cristina, Mirra, Bruno, Barretta, Ferdinando, Caiazza, Martina, Lombardo, Barbara, Scudiero, Olga, Tinto, Nadia, Limongelli, Giuseppe, Frisso, Giulia

    المساهمون: Mazzaccara, Cristina, Mirra, Bruno, Barretta, Ferdinando, Caiazza, Martina, Lombardo, Barbara, Scudiero, Olga, Tinto, Nadia, Limongelli, Giuseppe, Frisso, Giulia

    مصطلحات موضوعية: diagnosi, genetic testing, mitochondrial DNA, mitochondrial cardiomyopathy, mitochondrial disease, mutation, next generation sequencing

    العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000660148100001; volume:22; issue:11; firstpage:5742; lastpage:5775; numberofpages:34; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/11588/853026Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85106648639

    الإتاحة: https://doi.org/10.3390/ijms22115742Test
    http://hdl.handle.net/11588/853026Test

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  5. 5
    دورية أكاديمية
    Can obesity exacerbate hyperinsulinaemia in the presence of the mutation of an insulin receptor gene?

    المؤلفون: Calcaterra, Valeria, Zuccotti, Gianvincenzo, Mari, Alessandra, Iafusco, Fernanda, Maione, Giovanna, Iafusco, Dario, Tinto, Nadia

    المصدر: Clinical Obesity; Dec2023, Vol. 13 Issue 6, p1-5, 5p


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  6. 6
    دورية أكاديمية
    Un caso complesso di attribuzione di paternita'. (Italian)

    العنوان البديل: A complex case of paternity testing. (English)

    المؤلفون: Di Nunzio, Aldo, Di Nunzio, Ciro, Maione, Giovanna, Iafusco, Fernanda, Tinto, Nadia

    المصدر: Biochimica Clinica; Dec2023, Vol. 47 Issue 4, pe56-e61, 4p


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  7. 7
    دورية أكاديمية
    Generation of an iPSC line (UNINAi001-A) from a girl with neonatal-onset epilepsy and non-syndromic intellectual disability carrying the homozygous KCNQ3 p.PHE534ILEfs*15 variant and of an iPSC line (UNINAi002-A) from a non-carrier, unaffected brother

    المؤلفون: Longobardi, Elena, Miceli, Francesco, Secondo, Agnese, Cicatiello, Rita, Izzo, Antonella, Tinto, Nadia, Moutton, Sebastien, Tran Mau-Them, Frédéric, Vitobello, Antonio, Taglialatela, Maurizio

    المساهمون: Ministry of Education University and Research, EU Framework Programme for Research and Innovation Excellent Science, Telethon Foundation, Ministry of Health

    المصدر: Stem Cell Research ; volume 53, page 102311 ; ISSN 1873-5061

    مصطلحات موضوعية: Cell Biology, Developmental Biology, General Medicine

    الإتاحة: https://doi.org/10.1016/j.scr.2021.102311Test
    https://api.elsevier.com/content/article/PII:S1873506121001574?httpAccept=text/xmlTest
    https://api.elsevier.com/content/article/PII:S1873506121001574?httpAccept=text/plainTest

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  8. 8
    دورية أكاديمية
    The Pathogenic Diagnosis in Pediatric Diabetology: Next Generation Sequencing and Precision Therapy

    المؤلفون: Maione, Giovanna, Iafusco, Fernanda, Zanfardino, Angela, Piscopo, Alessia, Ozen, Gulsum, Iafusco, Dario, Tinto, Nadia

    المساهمون: Maione, Giovanna, Iafusco, Fernanda, Zanfardino, Angela, Piscopo, Alessia, Ozen, Gulsum, Iafusco, Dario, Tinto, Nadia

    مصطلحات موضوعية: monogenic diabete, next-generation sequencing, precision diabetology

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36837511; info:eu-repo/semantics/altIdentifier/wos/WOS:000940714300001; volume:59; issue:2; journal:MEDICINA; https://hdl.handle.net/11591/517157Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85148862734

    الإتاحة: https://doi.org/10.3390/medicina59020310Test
    https://hdl.handle.net/11591/517157Test

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  9. 9
    دورية أكاديمية
    Analysis of Corneal Deformation in Paediatric Patients Affected by Maturity Onset Diabetes of the Young Type 2

    المؤلفون: Lanza, Michele, Mozzillo, Enza, Boccia, Rosa, Fedi, Ludovica, Di Candia, Francesca, Tinto, Nadia, Melillo, Paolo, Simonelli, Francesca, Franzese, Adriana

    المساهمون: Lanza, Michele, Mozzillo, Enza, Boccia, Rosa, Fedi, Ludovica, Di Candia, Francesca, Tinto, Nadia, Melillo, Paolo, Simonelli, Francesca, Franzese, Adriana

    مصطلحات موضوعية: Corvis ST, MODY2, biomechanic, cornea, diabetes

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37189601; info:eu-repo/semantics/altIdentifier/wos/WOS:000978011100001; volume:13; issue:8; journal:DIAGNOSTICS; https://hdl.handle.net/11591/516355Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85153714929

    الإتاحة: https://doi.org/10.3390/diagnostics13081500Test
    https://hdl.handle.net/11591/516355Test

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  10. 10
    دورية أكاديمية
    The Association of Autoimmune Diseases with Type 1 Diabetes Mellitus in Children Depends Also by the Length of Partial Clinical Remission Phase (Honeymoon)

    المؤلفون: Ozen, Gulsum, Casaburo, Francesca, Piscopo, Alessia, Confetto, Santino, Zanfardino, Angela, Tinto, Nadia, Iafusco, Fernanda, Ozen, Gulsah, del Giudice, Emanuele Miraglia, Tasar, Medine Aysin, Yilmaz, Arzu, Iafusco, Dario

    العلاقة: a5bba919-966b-44c5-a77f-6b29e84dc6c4; https://avesis.hacettepe.edu.tr/publication/details/a5bba919-966b-44c5-a77f-6b29e84dc6c4/oaiTest

    الإتاحة: https://doi.org/10.1155/2020/2630827Test
    https://avesis.hacettepe.edu.tr/publication/details/a5bba919-966b-44c5-a77f-6b29e84dc6c4/oaiTest

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