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Mostrati risultati da 1 a 20 di 56
Titolo Data di pubblicazione Autori Tipo File Abstract
Otitis media with effusion and hearing impairment in children with Cornelia de Lange syndrome 2008 P. MarchisioL. PignataroD. MilaniL. LambertiniP. CapaccioS. EspositoN. Principi + Article (author) -
A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomalies 2010 D. MilaniS. MaitzL. Larizza + Article (author) -
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes 2013 C. CastronovoE. ValtortaM. CrippaD. RusconiD. MilaniL. LarizzaP. Finelli + Article (author) -
NEW POINTMUTATIONS AND EXON DELETIONS OF THE EP300 GENE IN PATIENTS WITH RUBINSTEIN-TAYBI SYNDROME 2013 G. NegriP. ColapietroD. RusconiD. MilaniL. ConsonniP. FinelliS. SpenaL. LarizzaC. Gervasini + Book Part (author) -
NUOVE MUTAZIONI PUNTIFORMI E DELEZIONI ESONICHE DEL GENE EP300 IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI 2013 G. NegriP. ColapietroD. RusconiD. MilaniL. ConsonniP. FinelliS. SpenaL. LarizzaC. Gervasini + Book Part (author) -
DELEZIONI IN 16p13.2 COINVOLGENTI TOTALMENTE O PARZIALMENTE IL GENE CREBBP IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI 2013 C. GervasiniD. RusconiP. ColapietroS. SpenaG. NegriD. MilaniP. FinelliL. Larizza + Book Part (author) -
Syndromic obesity : clinical implications of a correct diagnosis 2014 D. MilaniCERUTTI, MARTAL. PezzaniS. Esposito + Article (author) -
Is it time to change the neurofibromatosis 1 diagnostic criteria? 2014 D. MilaniC. SabatiniS. Esposito + Article (author) -
Ehlers-Danlos syndrome versus cleidocranial dysplasia 2014 F. BonarrigoD. MilaniS. Esposito + Article (author) -
Beckwith–Wiedemann and IMAGe syndromes : two very different diseases caused by mutations on the same gene 2014 D. MilaniL. PezzaniS. TabanoM. Miozzo Article (author) -
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene 2015 G. NegriD. MilaniP. ColapietroD. RusconiP. FinelliS. SpenaL. LarizzaC. Gervasini + Article (author) -
Treatment of Neurofibromatosis Type 1 2015 C. SabatiniD. MilaniS. Esposito + Article (author) -
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi Syndrome patients 2015 S. SpenaD. MilaniD. RusconiG. NegriP. ColapietroL. LarizzaC. Gervasini + Article (author) -
A multidisciplinary approach in neurofibromatosis 1 2015 D. MilaniL. PezzaniS. Esposito + Article (author) -
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management 2015 D. MilaniF. ManzoniL. PezzaniC. GervasiniS. Esposito + Article (author) -
Potential impact of fetal genotype on maternal blood pressure during pregnancy : the example of EP300 2015 D. MilaniL. PezzaniG. NegriC. GervasiniS. Esposito Article (author) -
HOXA genes cluster: clinical implications of the smallest deletion 2015 L. PezzaniD. MilaniF. ManzoniM. BaccarinR. SilipigniS. Esposito + Article (author) -
48, XXXY/49, XXXXY mosaic: new neuroradiological features in an ultra-rare syndrome 2015 D. MilaniF. BonarrigoF. TriulziS. Esposito + Article (author) -
Response to "Characteristics of 2p15-p16.1 microdeletion syndrome : review and description of two additional patients" 2015 L. RonzoniG. ScuveraS. EspositoD. Milani + Article (author) -
A case report with the peculiar concomitance of 2 different genetic syndromes 2016 A. LerarioI. ColomboD. MilaniL. PeverelliL. VillaR. DEL BOG.P. ComiS. Esposito + Article (author) -
Mostrati risultati da 1 a 20 di 56
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