skip to main content
Lingue:

Risutati 1 - 10 di 109  per Ricerca globale

Risultati 1 2 3 4 5 next page
Mostra solo
Result Number Material Type Add to My Shelf Action Record Details and Options
1
A HS6ST2 gene variant associated with X‐linked intellectual disability and severe myopia in two male twins
Material Type:
Articolo
Aggiungi allo Scaffale Elettronico

A HS6ST2 gene variant associated with X‐linked intellectual disability and severe myopia in two male twins

Paganini, Leda ; Hadi, Loubna A ; Chetta, Massimiliano ; Rovina, Davide ; Fontana, Laura ; Colapietro, Patrizia ; Bonaparte, Eleonora ; Pezzani, Lidia ; Marchisio, Paola ; Tabano, Silvia M ; Costanza, Jole ; Sirchia, Silvia M ; Riboni, Laura ; Milani, Donatella ; Miozzo, Monica

Clinical genetics, 2018-12-26, Vol.95 (3), p.368-374 [Rivista Peer Reviewed]

Fulltext disponibile

2
iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability
Material Type:
Articolo
Aggiungi allo Scaffale Elettronico

iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability

Alari, Valentina ; Russo, Silvia ; Terragni, Benedetta ; Ajmone, Paola Francesca ; Sironi, Alessandra ; Catusi, Ilaria ; Calzari, Luciano ; Concolino, Daniela ; Marotta, Rosa ; Milani, Donatella ; Giardino, Daniela ; Mantegazza, Massimo ; Gervasini, Cristina ; Finelli, Palma ; Larizza, Lidia

Stem cell research, 2018-07, Vol.30, p.130-140 [Rivista Peer Reviewed]

Fulltext disponibile

3
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
Material Type:
Articolo
Aggiungi allo Scaffale Elettronico

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

Musio, Antonio ; Selicorni, Angelo ; Focarelli, Maria Luisa ; Gervasini, Cristina ; Milani, Donatella ; Russo, Silvia ; Vezzoni, Paolo ; Larizza, Lidia

Nature genetics, 2006-04-09, Vol.38 (5), p.528-530 [Rivista Peer Reviewed]

Fulltext disponibile

4
Fragile X syndrome: a review of clinical and molecular diagnoses
Material Type:
Articolo
Aggiungi allo Scaffale Elettronico

Fragile X syndrome: a review of clinical and molecular diagnoses

Ciaccio, Claudia ; Fontana, Laura ; Milani, Donatella ; Tabano, Silvia ; Miozzo, Monica ; Esposito, Susanna

Italian journal of pediatrics, 2017-04-19, Vol.43 (1), p.39-39

Fulltext disponibile

5
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients
Material Type:
Articolo
Aggiungi allo Scaffale Elettronico

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients

Bentivegna, Angela ; Milani, Donatella ; Gervasini, Cristina ; Castronovo, Paola ; Mottadelli, Federica ; Manzini, Stefano ; Colapietro, Patrizia ; Giordano, Lucio ; Atzeri, Francesca ; Divizia, Maria T ; Uzielli, Maria L Giovannucci ; Neri, Giovanni ; Bedeschi, Maria F ; Faravelli, Francesca ; Selicorni, Angelo ; Larizza, Lidia

BMC medical genetics, 2006-10-19, Vol.7 (1), p.77-77 [Rivista Peer Reviewed]

Fulltext disponibile

6
Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth
Material Type:
Articolo
Aggiungi allo Scaffale Elettronico

Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth

Ferrari, Luca ; Scuvera, Giulietta ; Tucci, Arianna ; Bianchessi, Donatella ; Rusconi, Francesco ; Menni, Francesca ; Battaglioli, Elena ; Milani, Donatella ; Riva, Paola

Human genetics, 2017-10, Vol.136 (10), p.1329-1339 [Rivista Peer Reviewed]

Fulltext disponibile

7
Neurological phenotype of Potocki–Lupski syndrome
Material Type:
Articolo
Aggiungi allo Scaffale Elettronico

Neurological phenotype of Potocki–Lupski syndrome

Ciaccio, Claudia ; Pantaleoni, Chiara ; Milani, Donatella ; Alfei, Enrico ; Sciacca, Francesca L ; Canafoglia, Laura ; Erbetta, Alessandra ; D'Arrigo, Stefano

American journal of medical genetics. Part A, 2020-10, Vol.182 (10), p.2317-2324 [Rivista Peer Reviewed]

Fulltext disponibile

8
Tetrasomy 18p: The challenges of noninvasive prenatal testing and combined test
Material Type:
Articolo
Aggiungi allo Scaffale Elettronico

Tetrasomy 18p: The challenges of noninvasive prenatal testing and combined test

Tolva, Gianluca ; Silipigni, Rosamaria ; Quarenghi, Aida ; Vergani, Patrizia ; Guerneri, Silvana ; Milani, Donatella

The journal of obstetrics and gynaecology research, 2019-03, Vol.45 (3), p.705-708

Fulltext disponibile

9
Characterization of intellectual disability and autism comorbidity through gene panel sequencing
Material Type:
Articolo
Aggiungi allo Scaffale Elettronico

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

Aspromonte, Maria C ; Bellini, Mariagrazia ; Gasparini, Alessandra ; Carraro, Marco ; Bettella, Elisa ; Polli, Roberta ; Cesca, Federica ; Bigoni, Stefania ; Boni, Stefania ; Carlet, Ombretta ; Negrin, Susanna ; Mammi, Isabella ; Milani, Donatella ; Peron, Angela ; Sartori, Stefano ; Toldo, Irene ; Soli, Fiorenza ; Turolla, Licia ; Stanzial, Franco ; Benedicenti, Francesco ; Marino‐Buslje, Cristina ; Tosatto, Silvio C.E ; Murgia, Alessandra ; Leonardi, Emanuela

Human mutation, 2019-08-02, Vol.40 (9), p.1346-1363 [Rivista Peer Reviewed]

Fulltext disponibile

10
ZC4H2 deletions can cause severe phenotype in female carriers
Material Type:
Articolo
Aggiungi allo Scaffale Elettronico

ZC4H2 deletions can cause severe phenotype in female carriers

Zanzottera, Cristina ; Milani, Donatella ; Alfei, Enrico ; Rizzo, Ambra ; D'Arrigo, Stefano ; Esposito, Susanna ; Pantaleoni, Chiara

American journal of medical genetics. Part A, 2017-05, Vol.173 (5), p.1358-1363 [Rivista Peer Reviewed]

Fulltext disponibile

Risutati 1 - 10 di 109  per Ricerca globale

Risultati 1 2 3 4 5 next page

Personalizza i tuoi risultati

  1. Edita

Refine Search Results

Espandi i risultati

  1.   

Mostra solo

  1. Riviste Peer-reviewed (97)

Ricerca in corso nelle risorse remote ...