Results
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81.
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82.
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Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy. [electronic resource] by
- Naom, I S
- D'Alessandro, M
- Topaloglu, H
- Sewry, C
- Ferlini, A
- Helbling-Leclerc, A
- Guicheney, P
- Weissenbach, J
- Schwartz, K
- Bushby, K
- Philpot, J
- Dubowitz, V
- Muntoni, F
Producer: 19970505
In:
Journal of medical genetics vol. 34
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83.
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Exploring the clinical and epidemiological complexity of GJB2-linked deafness. [electronic resource] by
- Gualandi, F
- Ravani, A
- Berto, A
- Sensi, A
- Trabanelli, C
- Falciano, F
- Trevisi, P
- Mazzoli, M
- Tibiletti, M G
- Cristofari, E
- Burdo, S
- Ferlini, A
- Martini, A
- Calzolari, E
Producer: 20030304
In:
American journal of medical genetics vol. 112
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84.
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Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. [electronic resource] by
- Tagliavini, F
- Pellegrini, C
- Sardone, F
- Squarzoni, S
- Paulsson, M
- Wagener, R
- Gualandi, F
- Trabanelli, C
- Ferlini, A
- Merlini, L
- Santi, S
- Maraldi, N M
- Faldini, C
- Sabatelli, P
Producer: 20140925
In:
Biochimica et biophysica acta vol. 1842
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85.
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Dystrophin restoration in skeletal, heart and skin arrector pili smooth muscle of mdx mice by ZM2 NP-AON complexes. [electronic resource] by
- Ferlini, A
- Sabatelli, P
- Fabris, M
- Bassi, E
- Falzarano, S
- Vattemi, G
- Perrone, D
- Gualandi, F
- Maraldi, N M
- Merlini, L
- Sparnacci, K
- Laus, M
- Caputo, A
- Bonaldo, P
- Braghetta, P
- Rimessi, P
Producer: 20100614
In:
Gene therapy vol. 17
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86.
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Duchenne muscular dystrophy and epilepsy. [electronic resource] by
- Pane, M
- Messina, S
- Bruno, C
- D'Amico, A
- Villanova, M
- Brancalion, B
- Sivo, S
- Bianco, F
- Striano, P
- Battaglia, D
- Lettori, D
- Vita, G L
- Bertini, E
- Gualandi, F
- Ricotti, V
- Ferlini, A
- Mercuri, E
Producer: 20130903
In:
Neuromuscular disorders : NMD vol. 23
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87.
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Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy. [electronic resource] by
- Muntoni, F
- Di Lenarda, A
- Porcu, M
- Sinagra, G
- Mateddu, A
- Marrosu, G
- Ferlini, A
- Cau, M
- Milasin, J
- Melis, M A
- Marrosu, M G
- Cianchetti, C
- Sanna, A
- Falaschi, A
- Camerini, F
- Giacca, M
- Mestroni, L
Producer: 19980219
In:
Heart (British Cardiac Society) vol. 78
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88.
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Transcriptional behavior of DMD gene duplications in DMD/BMD males. [electronic resource] by
- Gualandi, F
- Neri, M
- Bovolenta, M
- Martoni, E
- Rimessi, P
- Fini, S
- Spitali, P
- Fabris, M
- Pane, M
- Angelini, C
- Mora, M
- Morandi, L
- Mongini, T
- Bertini, E
- Ricci, E
- Vattemi, G
- Mercuri, E
- Merlini, L
- Ferlini, A
Producer: 20090410
In:
Human mutation vol. 30
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89.
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Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. [electronic resource] by
- Vacca, M
- Filippini, F
- Budillon, A
- Rossi, V
- Mercadante, G
- Manzati, E
- Gualandi, F
- Bigoni, S
- Trabanelli, C
- Pini, G
- Calzolari, E
- Ferlini, A
- Meloni, I
- Hayek, G
- Zappella, M
- Renieri, A
- D'Urso, M
- D'Esposito, M
- MacDonald, F
- Kerr, A
- Dhanjal, S
- Hultén, M
Producer: 20010531
In:
Journal of molecular medicine (Berlin, Germany) vol. 78
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90.
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Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey. [electronic resource] by
- Sensi, A
- Cavani, S
- Villa, N
- Pomponi, M G
- Fogli, A
- Gualandi, F
- Grasso, M
- Sala, E
- Pietrobono, R
- Baldinotti, F
- Savin, E
- Ferlini, A
- Cecconi, M
- Rossi, S
- Gallone, S
- Bellini, C
- Neri, G
- Martinoli, E
- Simi, P
- Dalprà, L
- Genuardi, M
- Dagna-Bricarelli, F
- Calzolari, E
Producer: 20041130
In:
Prenatal diagnosis vol. 24
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91.
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MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region. [electronic resource] by
- Vacca, M
- Filippini, F
- Budillon, A
- Rossi, V
- Della Ragione, F
- De Bonis, M L
- Mercadante, G
- Manzati, E
- Gualandi, F
- Bigoni, S
- Trabanelli, C
- Pini, G
- Calzolari, E
- Ferlini, A
- Meloni, I
- Hayek, G
- Zappella, M
- Renieri, A
- D'Urso, M
- D'Esposito, M
- Macdonald, F
- Kerr, A
- Dhanjal, S
- Hulten, M
Producer: 20020313
In:
Brain & development vol. 23 Suppl 1
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92.
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Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains. [electronic resource] by
- Di Rienzo, M
- Antonioli, M
- Fusco, C
- Liu, Y
- Mari, M
- Orhon, I
- Refolo, G
- Germani, F
- Corazzari, M
- Romagnoli, A
- Ciccosanti, F
- Mandriani, B
- Pellico, M T
- De La Torre, R
- Ding, H
- Dentice, M
- Neri, M
- Ferlini, A
- Reggiori, F
- Kulesz-Martin, M
- Piacentini, M
- Merla, G
- Fimia, G M
Producer: 20200505
In:
Science advances vol. 5
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93.
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Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. [electronic resource] by
- De Gregori, M
- Ciccone, R
- Magini, P
- Pramparo, T
- Gimelli, S
- Messa, J
- Novara, F
- Vetro, A
- Rossi, E
- Maraschio, P
- Bonaglia, M C
- Anichini, C
- Ferrero, G B
- Silengo, M
- Fazzi, E
- Zatterale, A
- Fischetto, R
- Previderé, C
- Belli, S
- Turci, A
- Calabrese, G
- Bernardi, F
- Meneghelli, E
- Riegel, M
- Rocchi, M
- Guerneri, S
- Lalatta, F
- Zelante, L
- Romano, C
- Fichera, M
- Mattina, T
- Arrigo, G
- Zollino, M
- Giglio, S
- Lonardo, F
- Bonfante, A
- Ferlini, A
- Cifuentes, F
- Van Esch, H
- Backx, L
- Schinzel, A
- Vermeesch, J R
- Zuffardi, O
Producer: 20080201
In:
Journal of medical genetics vol. 44
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94.
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Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. [electronic resource] by
- Kunkel, L M
- Hejtmancik, J F
- Caskey, C T
- Speer, A
- Monaco, A P
- Middlesworth, W
- Colletti, C A
- Bertelson, C
- Müller, U
- Bresnan, M
- Shapiro, F
- Tantravahi, U
- Speer, J
- Latt, S A
- Bartlett, R
- Pericak-Vance, M A
- Roses, A D
- Thompson, M W
- Ray, P N
- Worton, R G
- Fischbeck, K H
- Gallano, P
- Coulon, M
- Duros, C
- Boue, J
- Junien, C
- Chelly, J
- Hamard, G
- Jeanpierre, M
- Lambert, M
- Kaplan, J C
- Emery, A
- Dorkins, H
- McGlade, S
- Davies, K E
- Boehm, C
- Arveiler, B
- Lemaire, C
- Morgan, G J
- Denton, M J
- Amos, J
- Bobrow, M
- Benham, F
- Boswinkel, E
- Cole, C
- Dubowitz, V
- Hart, K
- Hodgson, S
- Johnson, L
- Walker, A
- Roncuzzi, L
- Ferlini, A
- Nobile, C
- Romeo, G
- Wilcox, D E
- Affara, N A
- Ferguson-Smith, M A
- Lindolf, M
- Kaariainen, H
- de la Chapelle, A
- Ionasescu, V
- Searby, C
- Ionasescu, R
- Bakker, E
- van Ommen, G J
- Pearson, P L
- Greenberg, C R
- Hamerton, J L
- Wrogemann, K
- Doherty, R A
- Polakowska, R
- Hyser, C
- Quirk, S
- Thomas, N
- Harper, J F
- Darras, B T
- Francke, U
Producer: 19860815
In:
Nature vol. 322
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95.
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Expanding CEP290 mutational spectrum in ciliopathies. [electronic resource] by
- Travaglini, Lorena
- Brancati, Francesco
- Attie-Bitach, Tania
- Audollent, Sophie
- Bertini, Enrico
- Kaplan, Josseline
- Perrault, Isabelle
- Iannicelli, Miriam
- Mancuso, Brunella
- Rigoli, Luciana
- Rozet, Jean-Michel
- Swistun, Dominika
- Tolentino, Jerlyn
- Dallapiccola, Bruno
- Gleeson, Joseph G
- Valente, Enza Maria
- Zankl, A
- Leventer, R
- Grattan-Smith, P
- Janecke, A
- D'Hooghe, M
- Sznajer, Y
- Van Coster, R
- Demerleir, L
- Dias, K
- Moco, C
- Moreira, A
- Kim, C Ae
- Maegawa, G
- Petkovic, D
- Abdel-Salam, G M H
- Abdel-Aleem, A
- Zaki, M S
- Marti, I
- Quijano-Roy, S
- Sigaudy, S
- de Lonlay, P
- Romano, S
- Touraine, R
- Koenig, M
- Lagier-Tourenne, C
- Messer, J
- Collignon, P
- Wolf, N
- Philippi, H
- Kitsiou Tzeli, S
- Halldorsson, S
- Johannsdottir, J
- Ludvigsson, P
- Phadke, S R
- Udani, V
- Stuart, B
- Magee, A
- Lev, D
- Michelson, M
- Ben-Zeev, B
- Fischetto, R
- Benedicenti, F
- Stanzial, F
- Borgatti, R
- Accorsi, P
- Battaglia, S
- Fazzi, E
- Giordano, L
- Pinelli, L
- Boccone, L
- Bigoni, S
- Ferlini, A
- Donati, M A
- Caridi, G
- Divizia, M T
- Faravelli, F
- Ghiggeri, G
- Pessagno, A
- Briguglio, M
- Briuglia, S
- Salpietro, C D
- Tortorella, G
- Adami, A
- Castorina, P
- Lalatta, F
- Marra, G
- Riva, D
- Scelsa, B
- Spaccini, L
- Uziel, G
- Del Giudice, E
- Laverda, A M
- Ludwig, K
- Permunian, A
- Suppiej, A
- Signorini, S
- Uggetti, C
- Battini, R
- Di Giacomo, M
- Cilio, M R
- Di Sabato, M L
- Leuzzi, V
- Parisi, P
- Pollazzon, M
- Silengo, M
- De Vescovi, R
- Greco, D
- Romano, C
- Cazzagon, M
- Simonati, A
- Al-Tawari, A A
- Bastaki, L
- Mégarbané, A
- Sabolic Avramovska, V
- de Jong, M M
- Stromme, P
- Koul, R
- Rajab, A
- Azam, M
- Barbot, C
- Martorell Sampol, L
- Rodriguez, B
- Pascual-Castroviejo, I
- Teber, S
- Anlar, B
- Comu, S
- Karaca, E
- Kayserili, H
- Yüksel, A
- Akcakus, M
- Al Gazali, L
- Sztriha, L
- Nicholl, D
- Woods, C G
- Bennett, C
- Hurst, J
- Sheridan, E
- Barnicoat, A
- Hennekam, R
- Lees, M
- Blair, E
- Bernes, S
- Sanchez, H
- Clark, A E
- DeMarco, E
- Donahue, C
- Sherr, E
- Hahn, J
- Sanger, T D
- Gallager, T E
- Dobyns, W B
- Daugherty, C
- Krishnamoorthy, K S
- Sarco, D
- Walsh, C A
- McKanna, T
- Milisa, J
- Chung, W K
- De Vivo, D C
- Raynes, H
- Schubert, R
- Seward, A
- Brooks, D G
- Goldstein, A
- Caldwell, J
- Finsecke, E
- Maria, B L
- Holden, K
- Cruse, R P
- Swoboda, K J
- Viskochil, D
Producer: 20091217
In:
American journal of medical genetics. Part A vol. 149A
Availability: No items available.
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