Sfoglia per Autore  WEBER, GIOVANNA

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Titolo Data di pubblicazione Autori Tipo File Abstract
Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type Ia: New evidence for imprinting of the Gsα gene 1-gen-2003 Mantovani G.Weber G.Beck-Peccoz P.Spada A. + Article (author) -
Congenital hypothyroidism with gland in situ: diagnostic re-evaluation 1-gen-2005 G. WeberM.C. VigoneM.C. ProverbioL. PersaniG. Chiumello + Article (author) -
Thyroid scintigraphy and perchlorate test after recombinant human TSH: a new tool for the differential diagnosis of congenital hypothyroidism during infancy 1-gen-2007 L. FugazzolaL. PersaniG. VannucchiD. MannavolaM.C. VigoneG. WeberP. Beck-Peccoz + Article (author) -
A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH) 1-gen-2009 G. WeberD. CalebiroP. Beck PeccozL. Persani + Article (author) -
Genetics and phenomics of hypothyroidism due to TSH resistance 1-gen-2010 L. PersaniD. CalebiroD. CordellaG. WeberG. GelminiD.V. LibriM. Bonomi + Article (author) -
The Italian screening program for primary congenital hypothyroidism : actions to improve screening, diagnosis, follow-up, and surveillance 1-mar-2013 F. MoscaG. WeberA. Olivieri + Article (author) -
NovelNKX2-1frameshift mutations in patients with atypical phenotypes of the brain-lung-thyroid syndrome 1-dic-2014 F. MarelliG. WeberL. Persani + Article (author) -
Mild TSH resistance : Clinical and hormonal features in childhood and adulthood 1-nov-2017 M. BonomiL. PersaniWEBER, GIOVANNA + Article (author) -
Neonatal Screening for Congenital Hypothyroidism: What Can We Learn from Discordant Twins 1-gen-2019 Vigone M. C.Weber G.Gelmini G.Persani L. + Article (author) -
X-linked hypophosphatemic rickets : an Italian experts' opinion survey 31-mag-2019 Chiodini, IEller Vainicher, CWeber, G + Article (author) -
Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients 1-gen-2021 Meloni, AChiodini, IWeber, G + Article (author) -
Stochastic epigenetic mutations as possible explanation for phenotypical discordance among twins with congenital hypothyroidism 1-feb-2023 Gentilini, DMuzza, MWeber, GBartolucci, MGrassi, E SPersani, L + Article (author) -
Mostrati risultati da 1 a 12 di 12
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