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1
Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing
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Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing

Vitale, Giovanni ; Gitto, Stefano ; Raimondi, Francesco ; Mattiaccio, Alessandro ; Mantovani, Vilma ; Vukotic, Ranka ; D’Errico, Antonietta ; Seri, Marco ; Russell, Robert B ; Andreone, Pietro

Journal of gastroenterology, 2017-12-13, Vol.53 (8), p.945-958 [Rivista Peer Reviewed]

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Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2
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Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2

Pippucci, Tommaso ; Savoia, Anna ; Perrotta, Silverio ; Pujol-Moix, Núria ; Noris, Patrizia ; Castegnaro, Giovanni ; Pecci, Alessandro ; Gnan, Chiara ; Punzo, Francesca ; Marconi, Caterina ; Gherardi, Samuele ; Loffredo, Giuseppe ; De Rocco, Daniela ; Scianguetta, Saverio ; Barozzi, Serena ; Magini, Pamela ; Bozzi, Valeria ; Dezzani, Luca ; Di Stazio, Mariateresa ; Ferraro, Marcella ; Perini, Giovanni ; Seri, Marco ; Balduini, Carlo L

American journal of human genetics, 2011-01-07, Vol.88 (1), p.115-120 [Rivista Peer Reviewed]

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Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism
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Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism

Panza, Emanuele ; Martinelli, Diego ; Magini, Pamela ; Dionisi Vici, Carlo ; Seri, Marco

Frontiers in neurology, 2019-02-22, Vol.10, p.131-131 [Rivista Peer Reviewed]

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Mutations of RUNX1 in families with inherited thrombocytopenia
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Mutations of RUNX1 in families with inherited thrombocytopenia

De Rocco, Daniela ; Melazzini, Federica ; Marconi, Caterina ; Pecci, Alessandro ; Bottega, Roberta ; Gnan, Chiara ; Palombo, Flavia ; Giordano, Paola ; Coccioli, Maria Susanna ; Glembotsky, Ana C ; Heller, Paula G ; Seri, Marco ; Savoia, Anna ; Noris, Patrizia

American journal of hematology, 2017-06, Vol.92 (6), p.E86-E88 [Rivista Peer Reviewed]

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FA2H‐related disorders: a novel c.270+3A>T splice‐site mutation leads to a complex neurodegenerative phenotype
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FA2H‐related disorders: a novel c.270+3A>T splice‐site mutation leads to a complex neurodegenerative phenotype

GARONE, CATERINA ; PIPPUCCI, TOMMASO ; CORDELLI, DUCCIO M ; ZUNTINI, ROBERTA ; CASTEGNARO, GIOVANNI ; MARCONI, CATERINA ; GRAZIANO, CLAUDIO ; MARCHIANI, VALENTINA ; VERROTTI, ALBERTO ; SERI, MARCO ; FRANZONI, EMILIO

Developmental medicine and child neurology, 2011-10, Vol.53 (10), p.958-961 [Rivista Peer Reviewed]

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6
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22–q11.2
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SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22–q11.2

Cagnoli, Claudia ; Mariotti, Caterina ; Taroni, Franco ; Seri, Marco ; Brussino, Alessandro ; Michielotto, Chiara ; Grisoli, Marina ; Di Bella, Daniela ; Migone, Nicola ; Gellera, Cinzia ; Di Donato, Stefano ; Brusco, Alfredo

Brain (London, England : 1878), 2006-01, Vol.129 (1), p.235-242 [Rivista Peer Reviewed]

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7
A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype
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A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype

Licchetta, Laura ; Pippucci, Tommaso ; Bisulli, Francesca ; Cantalupo, Gaetano ; Magini, Pamela ; Alvisi, Lara ; Baldassari, Sara ; Martinelli, Paolo ; Naldi, Ilaria ; Vanni, Nicola ; Liguori, Rocco ; Seri, Marco ; Tinuper, Paolo

Epilepsia (Copenhagen), 2013-07, Vol.54 (7), p.1298-1306 [Rivista Peer Reviewed]

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8
Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene
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Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene

Pescucci, Chiara ; Mari, Francesca ; Longo, Ilaria ; Vogiatzi, Paraskevi ; Caselli, Rossella ; Scala, Elisa ; Abaterusso, Cataldo ; Gusmano, Rosanna ; Seri, Marco ; Miglietti, Nunzia ; Bresin, Elena ; Renieri, Alessandra

Kidney international, 2004-05, Vol.65 (5), p.1598-1603 [Rivista Peer Reviewed]

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9
Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21
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Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21

Pelleri, Maria Chiara ; Cicchini, Elena ; Petersen, Michael B ; Tranebjærg, Lisbeth ; Mattina, Teresa ; Magini, Pamela ; Antonaros, Francesca ; Caracausi, Maria ; Vitale, Lorenza ; Locatelli, Chiara ; Seri, Marco ; Strippoli, Pierluigi ; Piovesan, Allison ; Cocchi, Guido

Molecular genetics & genomic medicine, 2019-06-25, Vol.7 (8), p.e797-n/a [Rivista Peer Reviewed]

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10
MYH9 -Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations
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MYH9 -Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations

Pecci, Alessandro ; Klersy, Catherine ; Gresele, Paolo ; Lee, Kieran J.D ; De Rocco, Daniela ; Bozzi, Valeria ; Russo, Giovanna ; Heller, Paula G ; Loffredo, Giuseppe ; Ballmaier, Matthias ; Fabris, Fabrizio ; Beggiato, Eloise ; Kahr, Walter H.A ; Pujol-Moix, Nuria ; Platokouki, Helen ; Van Geet, Christel ; Noris, Patrizia ; Yerram, Preethi ; Hermans, Cedric ; Gerber, Bernhard ; Economou, Marina ; De Groot, Marco ; Zieger, Barbara ; De Candia, Erica ; Fraticelli, Vincenzo ; Kersseboom, Rogier ; Piccoli, Giorgina B ; Zimmermann, Stefanie ; Fierro, Tiziana ; Glembotsky, Ana C ; Vianello, Fabrizio ; Zaninetti, Carlo ; Nicchia, Elena ; Güthner, Christiane ; Baronci, Carlo ; Seri, Marco ; Knight, Peter J ; Balduini, Carlo L ; Savoia, Anna

Human mutation, 2014-02, Vol.35 (2), p.236-247 [Rivista Peer Reviewed]

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