Bilaketaren emaitzak - Giovanna Weber
- Erakusten 1 - 20 emaitzak -- 21
- Go to Next Page
-
1
-
2
-
3
Neonatal transient hypothyroidism: aetiological study nork Giovanna Weber, Maria Cristina Vigone, Anna Rapa, Gianni Bona, G Chiumello
Argitaratua 1998Artigo -
4
-
5
Congenital Hypothyroidism due to Defects of Thyroid Development and Mild Increase of TSH at Screening: Data From the Italian National Registry of Infants With Congenital Hypothyroi... nork Antonella Olivieri, Carlo Corbetta, Giovanna Weber, Maria Cristina Vigone, Cristina Fazzini, Emanuela Medda
Argitaratua 2013Artigo -
6
-
7
-
8
Molecular Analysis of the Pendred’s Syndrome Gene and Magnetic Resonance Imaging Studies of the Inner Ear Are Essential for the Diagnosis of True Pendred’s Syndrome1 nork Laura Fugazzola, Deborah Mannavola, Nadia Cerutti, Mohamad Maghnie, Fabio Pagella, Paolo Bianchi, Giovanna Weber, Luca Persani, Paolo Beck‐Peccoz
Argitaratua 2000Artigo -
9
Congenital Hypothyroidism With Eutopic Thyroid Gland: Analysis of Clinical and Biochemical Features at Diagnosis and After Re-Evaluation nork Sarah Rabbiosi, Maria Cristina Vigone, Francesca Cortinovis, I. Zamproni, Laura Fugazzola, Luca Persani, Carlo Corbetta, G Chiumello, Giovanna Weber
Argitaratua 2013Artigo -
10
Growth Hormone-Releasing Hormone Resistance in Pseudohypoparathyroidism Type Ia: New Evidence for Imprinting of the Gsα Gene nork Giovanna Mantovani, Mohamad Maghnie, Giovanna Weber, Ernesto De Menis, Valeria Brunelli, Marco Cappa, Paola Loli, Paolo Beck‐Peccoz, Anna Spada
Argitaratua 2003Artigo -
11
Germline Mutations of TSH Receptor Gene as Cause of Nonautoimmune Subclinical Hypothyroidism nork Luisella Alberti, Maria Carla Proverbio, Sabine Costagliola, Roberto Romoli, Benedetta Boldrighini, Maria Cristina Vigone, Giovanna Weber, G Chiumello, Paolo Beck‐Peccoz, Luca Persani
Argitaratua 2002Artigo -
12
Biallelic Inactivation of the Dual Oxidase Maturation Factor 2 (DUOXA2) Gene as a Novel Cause of Congenital Hypothyroidism nork I. Zamproni, Helmut Grasberger, Francesca Cortinovis, Maria Cristina Vigone, G Chiumello, Stefano Mora, Kazumichi Onigata, Laura Fugazzola, Samuel Refetoff, Luca Persani, Giovanna Weber
Argitaratua 2007Artigo -
13
Neutralizing Anti-Cytokine Autoantibodies Against Interferon-α in Immunodysregulation Polyendocrinopathy Enteropathy X-Linked nork Jacob M. Rosenberg, Maria Elena Maccari, Federica Barzaghi, Eric J. Allenspach, Claudio Pignata, Giovanna Weber, Troy R. Torgerson, Paul J. Utz, Rosa Bacchetta
Argitaratua 2018Artigo -
14
The Clinical and Molecular Characterization of Patients With Dyshormonogenic Congenital Hypothyroidism Reveals Specific Diagnostic Clues for DUOX2 Defects nork Marina Muzza, Sarah Rabbiosi, Maria Cristina Vigone, I. Zamproni, Valentina Cirello, Maria Antonia Maffini, Katia Maruca, Nadia Schoenmakers, Luciano Beccaria, Francesco Gallo, S.-M. Park, P. Beck‐Peccoz, Luca Persani, Giovanna Weber, Laura Fugazzola
Argitaratua 2014Artigo -
15
JAG1 Loss-Of-Function Variations as a Novel Predisposing Event in the Pathogenesis of Congenital Thyroid Defects nork Tiziana de Filippis, Federica Marelli, Gabriella Nebbia, Patrizia Porazzi, Sabrina Corbetta, Laura Fugazzola, Roberto Gastaldi, Maria Cristina Vigone, Roberta Biffanti, Daniela Frizziero, Luana Mandarà, Paolo Prontera, Mariacarolina Salerno, Mohamad Maghnie, Natascia Tiso, Giorgio Radetti, Giovanna Weber, Luca Persani
Argitaratua 2016Artigo -
16
Frequent TSH Receptor Genetic Alterations with Variable Signaling Impairment in a Large Series of Children with Nonautoimmune Isolated Hyperthyrotropinemia nork Davide Calebiro, Giulia Gelmini, Daniela Cordella, Marco Bonomi, Franziska Winkler, Heike Biebermann, Alessandro De Marco, Federica Marelli, Domenico Libri, Francesco Antonica, Maria Cristina Vigone, Marco Cappa, Caterina Mian, Alessandro Sartório, Paolo Beck‐Peccoz, Giorgio Radetti, Giovanna Weber, Luca Persani
Argitaratua 2011Artigo -
17
Accuracy of Fine Needle Aspiration Biopsy of Thyroid Nodules in Detecting Malignancy in Childhood: Comparison with Conventional Clinical, Laboratory, and Imaging Approaches nork Andrea Corrias, S. Einaudi, E Chiorboli, Giovanna Weber, Antonino Crinò, María Andreo Galera, G Cesaretti, Luisa De Sanctis, Maria Francesca Messina, Mattia Di Segni, M. Giulia Cicchetti, Maria Cristina Vigone, Anna Maria Pasquino, S. Spera, F. De Luca, G. C. Mussa, Gianni Bona
Argitaratua 2001Artigo -
18
A frequent oligogenic involvement in congenital hypothyroidism nork Tiziana de Filippis, Giulia Gelmini, Elvezia Maria Paraboschi, Maria Cristina Vigone, Marianna Di Frenna, Federica Marelli, Marco Bonomi, Alessandra Cassio, Daniela Larizza, Mirella Moro, Giorgio Radetti, Mariacarolina Salerno, Diego Ardissino, Giovanna Weber, Davide Gentilini, Fabiana Guizzardi, Stefano Duga, Luca Persani
Argitaratua 2017Artigo -
19
X-linked hypophosphatemic rickets: an Italian experts’ opinion survey nork Francesco Emma, Marco Cappa, Franco Antoniazzi, Maria Luisa Bianchi, Iacopo Chiodini, Cristina Eller Vainicher, Natascia Di Iorgi, Mohamad Maghnie, Alessandra Cassio, Antonio Balsamo, Federico Baronio, Luisa De Sanctis, Daniele Tessaris, Giampiero I. Baroncelli, Stefano Mora, Maria Luisa Brandi, Giovanna Weber, A D’Ausilio, E. P. Lanati
Argitaratua 2019Artigo -
20
Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome nork Cinzia Mazza, Fabio Buzi, Federica Ortolani, Alberto Vitali, Lucia Dora Notarangelo, Giovanna Weber, Rosa Bacchetta, Annarosa Soresina, Vassilios Lougaris, Nella Augusta Greggio, Andrea Taddio, Srdjan Pašić, Monique De Vroede, Małgorzata Pac, Sara Şebnem Kılıç, Ozden Sanal, Roberto Rusconi, Silvana Martino, Donatella Capalbo, Mariacarolina Salerno, Claudio Pignata, Giorgio Radetti, Giuseppe Maggiore, Alessandro Plebani, Luigi D. Notarangelo, Raffaele Badolato
Argitaratua 2011Artigo
Bilaketa egiteko lanabesak:
Antzeko gaiak
Medicine
Internal medicine
Endocrinology
Thyroid
Biology
Genetics
Congenital hypothyroidism
Gene
Pediatrics
Pathology
Disease
Immunology
Mutation
Compound heterozygosity
Gastroenterology
Missense mutation
Nonsense mutation
Organification
Proband
Allele
Antibody
Bone disease
Bone mineral
Chemistry
Coeliac disease
Environmental health
Etiology
Gluten
Gluten free
Goiter