Hasil Pencarian - Maria Gnoli

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  1. 1
    Vitamin D and Bone fragility in Individuals with Osteogenesis Imperfecta: A Scoping Review

    Vitamin D and Bone fragility in Individuals with Osteogenesis Imperfecta: A Scoping Review oleh Maria Gnoli, Evelise Brizola, Morena Tremosini, Alessia Di Cecco, Luca Sangiorgi

    Diterbitkan 2023-05-01
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  2. 2
    An Easy-to-Use Approach to Detect CNV From Targeted NGS Data: Identification of a Novel Pathogenic Variant in MO Disease

    An Easy-to-Use Approach to Detect CNV From Targeted NGS Data: Identification of a Novel Pathogenic Variant in MO Disease oleh Serena Corsini, Elena Pedrini, Claudio Patavino, Maria Gnoli, Marcella Lanza, Luca Sangiorgi

    Diterbitkan 2022-06-01
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  3. 3
    Cost-effectiveness of bringing a nurse into an Italian genetic day clinic: a before and after study

    Cost-effectiveness of bringing a nurse into an Italian genetic day clinic: a before and after study oleh Marina Mordenti, Morena Tremosini, Manuela Locatelli, Maria Gnoli, Cristiana Forni, Elena Pedrini, Manila Boarini, Luca Sangiorgi

    Diterbitkan 2023-11-01
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  4. 4
    Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation

    Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation oleh Evelise Brizola, Maria Gnoli, Morena Tremosini, Paolo Nucci, Sara Bargiacchi, Andrea La Barbera, Sabrina Giglio, Luca Sangiorgi

    Diterbitkan 2020-09-01
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  5. 5
    Real-World Data and Budget Impact Analysis (BIA): Evaluation of a Targeted Next-Generation Sequencing Diagnostic Approach in Two Orthopedic Rare Diseases

    Real-World Data and Budget Impact Analysis (BIA): Evaluation of a Targeted Next-Generation Sequencing Diagnostic Approach in Two Orthopedic Rare Diseases oleh Elena Pedrini, Antonella Negro, Eugenio Di Brino, Valentina Pecoraro, Camilla Sculco, Elisabetta Abelli, Maria Gnoli, Armando Magrelli, Luca Sangiorgi, Americo Cicchetti

    Diterbitkan 2022-06-01
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  6. 6
    Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature

    Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature oleh Agostino Gaudio, Anastasia Xourafa, Rosario Rapisarda, Cristina Gorgone, Maria Gnoli, Elena Pedrini, Luca Sangiorgi, Antonino Catalano, Luca Zanoli, Teresa Mattina, Pietro Castellino

    Diterbitkan 2021-02-01
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  7. 7
    Osteogenesis imperfecta: a cross-sectional study of skeletal and extraskeletal features in a large cohort of Italian patients

    Osteogenesis imperfecta: a cross-sectional study of skeletal and extraskeletal features in a large cohort of Italian patients oleh Marina Mordenti, Manila Boarini, Federico Banchelli, Diego Antonioli, Serena Corsini, Maria Gnoli, Manuela Locatelli, Elena Pedrini, Eric Staals, Giovanni Trisolino, Marcella Lanza, Luca Sangiorgi

    Diterbitkan 2024-01-01
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  8. 8
    COL1-Related Disorders: Case Report and Review of Overlapping Syndromes

    COL1-Related Disorders: Case Report and Review of Overlapping Syndromes oleh Maria Gnoli, Evelise Brizola, Morena Tremosini, Elena Pedrini, Margherita Maioli, Massimiliano Mosca, Alessandra Bassotti, Alessandra Bassotti, Paola Castronovo, Paola Castronovo, Cecilia Giunta, Luca Sangiorgi

    Diterbitkan 2021-05-01
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  9. 9
    Secondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case series

    Secondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case series oleh Maria Gnoli, Marco Gambarotti, Alberto Righi, Eric Lodewijk Staals, Andrea Evangelista, Morena Tremosini, Evelise Brizola, Marina Mordenti, Manila Boarini, Manuela Locatelli, Elena Pedrini, Luca Sangiorgi

    Diterbitkan 2024-02-01
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  10. 10
    Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I

    Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I oleh Francesco Bonatti, Alessia Adorni, Annalisa Matichecchia, Paola Mozzoni, Vera Uliana, Francesco Pisani, Livia Garavelli, Claudio Graziano, Maria Gnoli, Diana Carli, Stefania Bigoni, Elena Boschi, Davide Martorana, Antonio Percesepe

    Diterbitkan 2017-09-01
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  11. 11
    Secondary peripheral chondrosarcoma arising in solitary osteochondroma: variables influencing prognosis and survival

    Secondary peripheral chondrosarcoma arising in solitary osteochondroma: variables influencing prognosis and survival oleh Alberto Righi, Marina Pacheco, Stefania Cocchi, Sofia Asioli, Marco Gambarotti, Davide Maria Donati, Andrea Evangelista, Maria Gnoli, Manuela Locatelli, Marina Mordenti, Manila Boarini, Evelise Brizola, Elena Pedrini, Luca Sangiorgi

    Diterbitkan 2022-02-01
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