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1
Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis)
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Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis)

Andolfo, Immacolata ; Russo, Roberta ; Manna, Francesco ; Shmukler, Boris E ; Gambale, Antonella ; Vitiello, Giuseppina ; De Rosa, Gianluca ; Brugnara, Carlo ; Alper, Seth L ; Snyder, L. Michael ; Iolascon, Achille

American journal of hematology, 2015, Vol.90 (10), p.921-926 [Rivista Peer Reviewed]

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Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI
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Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

Poretti, Anea ; Vitiello, Giuseppina ; Hennekam, Raoul C. M ; Arrigoni, Filippo ; Bertini, Enrico ; Borgatti, Renato ; Brancati, Francesco ; D'Arrigo, Stefano ; Faravelli, Francesca ; Giordano, Lucio ; Huisman, Thierry A. G. M ; Iannicelli, Miriam ; Kluger, Gerhard ; Kyllerman, Marten ; Landgren, Magnus ; Lees, Melissa M ; Pinelli, Lorenzo ; Romaniello, Romina ; Scheer, Ianina ; Schwarz, Christoph E ; Spiegel, Ronen ; Tibussek, Daniel ; Valente, Enza Maria ; Boltshauser, Eugen

Orphanet journal of rare diseases, 2012, Vol.7 (1), p.4-4 [Rivista Peer Reviewed]

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Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders
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Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders

Negri, Gloria ; Magini, Pamela ; Milani, Donatella ; Crippa, Milena ; Biamino, Elisa ; Piccione, Maria ; Sotgiu, Stefano ; Perrìa, Chiara ; Vitiello, Giuseppina ; Frontali, Marina ; Boni, Antonella ; Di Fede, Elisabetta ; Gandini, Maria Chiara ; Colombo, Elisa Adele ; Bamshad, Michael J ; Nickerson, Deborah A ; Smith, Joshua D ; Loddo, Italia ; Finelli, Palma ; Seri, Marco ; Pippucci, Tommaso ; Larizza, Lidia ; Gervasini, Cristina

Human genetics, 2019, Vol.138 (3), p.257-269 [Rivista Peer Reviewed]

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Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations
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Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

Tripathy, Ratna ; Leca, Ines ; van Dijk, Tessa ; Weiss, Janneke ; van Bon, Bregje W ; Sergaki, Maria Christina ; Gstrein, Thomas ; Breuss, Martin ; Tian, Guoling ; Bahi-Buisson, Nadia ; Paciorkowski, Alexander R ; Pagnamenta, Alistair T ; Wenninger-Weinzierl, Andrea ; Martinez-Reza, Maria Fernanda ; Landler, Lukas ; Lise, Stefano ; Taylor, Jenny C ; Terrone, Gaetano ; Vitiello, Giuseppina ; Del Giudice, Ennio ; Brunetti-Pierri, Nicola ; D’Amico, Alessandra ; Reymond, Alexandre ; Voisin, Norine ; Bernstein, Jonathan A ; Farrelly, Ellyn ; Kini, Usha ; Leonard, Thomas A ; Valence, Stéphanie ; Burglen, Lydie ; Armstrong, Linlea ; Hiatt, Susan M ; Cooper, Gregory M ; Aldinger, Kimberly A ; Dobyns, William B ; Mirzaa, Ghayda ; Pierson, Tyler Mark ; Baas, Frank ; Chelly, Jamel ; Cowan, Nicholas J ; Keays, David Anthony

Neuron (Cambridge, Mass.), 2018, Vol.100 (6), p.1354-1368.e5 [Rivista Peer Reviewed]

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Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype
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Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype

Quattrocchi, Carlo C ; Zanni, Ginevra ; Napolitano, Antonio ; Longo, Daniela ; Cordelli, Duccio Maria ; Barresi, Sabina ; Randisi, Francesco ; Valente, Enza Maria ; Verdolotti, Tommaso ; Genovese, Elisabetta ; Specchio, Nicola ; Vitiello, Giuseppina ; Spiegel, Ronen ; Bertini, Enrico ; Bernardi, Bruno

neurogenetics, 2013-02, Vol.14 (1), p.77-83 [Rivista Peer Reviewed]

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6
De novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver
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De novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver

Rapini, Novella ; Lidano, Roberta ; Pietrosanti, Silvia ; Vitiello, Giuseppina ; Grimaldi, Chiara ; Postorivo, Diana ; Nardone, Anna Maria ; Del Bufalo, Francesca ; Brancati, Francesco ; Manca Bitti, Maria Luisa

Italian journal of pediatrics, 2014-01-16, Vol.40 (1), p.5 [Rivista Peer Reviewed]

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7
An extremely severe phenotype attributed to WDR81 nonsense mutations
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An extremely severe phenotype attributed to WDR81 nonsense mutations

Cappuccio, Gerarda ; Pinelli, Michele ; Torella, Annalaura ; Vitiello, Giuseppina ; D'Amico, Alessandra ; Alagia, Marianna ; Del Giudice, Ennio ; Nigro, Vincenzo ; Brunetti-Pierri, Nicola

Annals of neurology, 2017, Vol.82 (4), p.650-651 [Rivista Peer Reviewed]

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8
De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype
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De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype

Chilton, Ilana ; Okur, Volkan ; Vitiello, Giuseppina ; Selicorni, Angelo ; Mariani, Milena ; Goldenberg, Alice ; Husson, Thomas ; Campion, Dominique ; Lichtenbelt, Klaske D ; Gassen, Koen ; Steinraths, Michelle ; Rice, Jennifer ; Roeder, Elizabeth R ; Littlejohn, Rebecca O ; Srour, Myriam ; Sebire, Guillaume ; Accogli, Andrea ; Héron, Delphine ; Heide, Solveig ; Nava, Caroline ; Depienne, Christel ; Larson, Austin ; Niyazov, Dmitriy ; Azage, Meron ; Hoganson, George ; Burton, Jennifer ; Rush, Eric T ; Jenkins, Janda L ; Saunders, Carol J ; Thiffault, Isabelle ; Alaimo, Joseph T ; Fleischer, Julie ; Groepper, Daniel ; Gripp, Karen W ; Chung, Wendy K

American journal of medical genetics. Part A, 2020, Vol.182 (5), p.962-973 [Rivista Peer Reviewed]

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9
Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients
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Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients

Briguglio, Marilena ; Pinelli, Lorenzo ; Giordano, Lucio ; Ferraris, Alessandro ; Germanò, Eva ; Micheletti, Serena ; Severino, Mariasavina ; Bernardini, Laura ; Loddo, Sara ; Tortorella, Gaetano ; Ormitti, Francesca ; Gasparotti, Roberto ; Rossi, Andrea ; Valente, Enza Maria

Orphanet journal of rare diseases, 2011-06-08, Vol.6 (1), p.36-36 [Rivista Peer Reviewed]

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10
M170. GENETIC CHARACTERIZATION OF A COHORT OF PATIENTS AFFECTED BY SCHIZOPHRENIA. THE ROLE FOR RARE STRUCTURAL VARIANTS IN MODULATING TREATMENT RESISTANT ENDOPHENOTYPES: PRELIMINARY DATA
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M170. GENETIC CHARACTERIZATION OF A COHORT OF PATIENTS AFFECTED BY SCHIZOPHRENIA. THE ROLE FOR RARE STRUCTURAL VARIANTS IN MODULATING TREATMENT RESISTANT ENDOPHENOTYPES: PRELIMINARY DATA

Barone, Annarita ; Iasevoli, Felice ; Matrone, Marta ; Filomena Buonaguro, Elisabetta ; Falco, Mariateresa ; Genesio, Rita ; Pignataro, Piero ; Capasso, Mario ; Gambale, Antonella ; Avagliano, Camilla ; Razzino, Eugenio ; Notar Francesco, Danilo ; Ciccarelli, Mariateresa ; Vitiello, Giuseppina ; Andolfo, Immacolata ; Nitsch, Lucio ; Iolascon, Achille ; de Bartolomeis, Andrea

Schizophrenia bulletin, 2020-05-18, Vol.46 (Supplement_1), p.S201-S201 [Rivista Peer Reviewed]

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