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Saverio Scianguetta

Seconda Università degli Studi di Napoli

26

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Response to Measles, Mumps and Rubella (MMR) Vaccine in Transfusion-Dependent Patients.

2021 Vaccine
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Effects of Germline VHL Deficiency on Growth, Metabolism, and Mitochondria

2020 The New England Journal of Medicine
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Hb Vanvitelli: A new unstable α-globin chain variant causes undiagnosed chronic haemolytic anaemia when co-inherited with deletion − α3.7.

2019 Clinical Biochemistry
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Familial neurohypophyseal diabetes insipidus in 13 kindreds and 2 novel mutations in the vasopressin gene

2019 European Journal of Endocrinology
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Long‐term improvement in cardiac magnetic resonance in β‐thalassemia major patients treated with deferasirox extends to patients with abnormal baseline cardiac function

2018 American Journal of Hematology
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Life-Threatening Drug-Induced Liver Injury in a Patient with β-Thalassemia Major and Severe Iron Overload on Polypharmacy

2018 Hemoglobin
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Iron overload enhances human mesenchymal stromal cell growth and hampers matrix calcification.

2016 Biochimica et Biophysica Acta
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LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies

2014 BMC Medical Genetics
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Early-Onset Central Diabetes Insipidus is Associated with De Novo Arginine Vasopressin-Neurophysin II or Wolfram Syndrome 1 Gene Mutations

2014
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HNF-1β mutation affects PKD2 and SOCS3 expression causing renal cysts and diabetes in MODY5 kindred.

2013 Journal of Nephrology
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Citations (10)