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Mostrati risultati da 1 a 20 di 32
Titolo Data di pubblicazione Autori Tipo File Abstract
Hyperplastic pituitary gland, high serum glycoprotein hormone alpha-subunit, and variable circulating thyrotropin (TSH) levels as hallmark of central hypothyroidism due to mutations of the TSH beta gene 2001 M. BonomiM.C. ProverbioP. Beck PeccozL. Persani + Article (author) -
A novel germline mutation in the TSH receptor gene causes non-autoimmune autosomal dominant hyperthyroidism 2001 M. C. ProverbioP. Beck-PeccozL. Persani + Article (author) -
Germline Mutations of TSH Receptor Gene as Cause of Nonautoimmune Subclinical Hypothyroidism 2002 MARIA CARLA PROVERBIOPAOLO BECK-PECCOZLUCA PERSANI + Article (author) -
Polymorphism of Vitamin d receptor gene start codon in patients with calcium kidney stones 2002 L. SoldatiM.C. Proverbio + Article (author) -
Is the -88 A/G polymorphism in SEL1L gene associated with Alzheimer's disease? 2004 P. BertoraSALTINI, GIULIANA LUISA MARIAC. LovatiM.C. ProverbioE. MaillandS. PomatiC. Mariani + Article (author) -
Congenital hypothyroidism with gland in situ: diagnostic re-evaluation 2005 G. WeberM.C. VigoneM.C. ProverbioL. PersaniG. Chiumello + Article (author) -
Congenital hypothyroidism with gland in situ: diagnostic revaluation. 2005 M.C. ProverbioL. Persani + Article (author) -
Familial hypocalciuric hypocalcaemia: a new inactivating mutation of calcium sensing receptor 2007 R. BiasionA. TerranegraD. CusiE. DogliottiM.C. ProverbioL. Soldati + Article (author) -
Iperinsulinismo congenito dell'infanzia : valutazione clinica e metabolica, analisi genetica e correlazione fenotipica, creazione registro nazionale 2007 M. C. ProverbioA. GessiC. BattagliaE. Mangano + Conference Object -
A computational approach to identify whole genome homozygosity mapping across multiple SNP mapping experiments 2008 A. GessiM. ProverbioE. ManganoI. CifolaC. Battaglia + Conference Object -
Homozygousity mapping of congenital hyperinsulinism of infancy (CHI) in Italian patients 2008 A. GessiM.C. ProverbioE . ManganoSALVATONI, ALESSANDRAG. ChiumelloC. Battaglia + Conference Object -
Defect in β-oxidation SCHAD enzyme in familial congenital hyperinsulinism of infancy (CHI) 2008 A. GessiM.C. ProverbioE. ManganoC. Battaglia + Conference Object -
Congenital hyperinsulinism of infancy (CHI) : clinical and metabolic evaluation, molecular analysis and phenotype correlation : Institution of the Italian National Registry 2008 M.C. ProverbioE. ManganoC. BattagliaA. SalvatoniG. ChiumelloA. Gessi + Conference Object -
The first mutation in HADHSC gene in a Italian infant with congenital hyperinsulinism 2008 M.C. ProverbioA. GessiE. ManganoC. BattagliaA. SalvatoniG. Chiumello + Conference Object -
Identification of a diffuse form of hyperinsulinemic hypoglycemia by 18-fluoro-L-3,4 dihydroxyphenylalanine positron emission tomography/CT in a patient carrying a novel mutation of the HADH gene 2009 A. GessiE. ManganoG. ChiumelloM.C. Proverbio + Article (author) -
Congenital hyperinsulinism of infancy : a dominant K-ATP channel mutation in a Italian family 2009 M.C. ProverbioA. gessiA. GabrieliC. BattagliaG. Chiumello + Article (author) -
Iperinsulinismo congenito : mutazione dominante nel canale ATP+-dipendente in una famiglia Italiana 2009 M.C. ProverbioA. GessiA. GabrieliC. BattagliaG. Chiumello + Conference Object -
Integrated genomics analysis of gene and miRNA expression profiles in clear cell renal carcinoma cell lines 2011 V. TinagliaI. CifolaE. ManganoM.C. ProverbioC. Battaglia + Conference Object -
Gene expression profiling of A549 cells exposed to Milan PM2.5 2012 M. MattioliV. TinagliaM.C. ProverbioC. Battaglia + Article (author) -
Genetic analysis of Italian patients with congenital hyperinsulinism of infancy 2013 M.C. ProverbioC. DiceglieA. GessiR. AsseltaC. Battaglia + Article (author) -
Mostrati risultati da 1 a 20 di 32
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