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Long-term balancing selection maintains trans-specific polymorphisms in the human TRIM5 gene. [electronic resource] by
- Cagliani, R
- Fumagalli, M
- Biasin, M
- Piacentini, L
- Riva, S
- Pozzoli, U
- Bonaglia, M C
- Bresolin, N
- Clerici, M
- Sironi, Manuela
Producer: 20110121
In:
Human genetics vol. 128
Availability: No items available.
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15.
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Two dystrophin proteins and transcripts in a mild dystrophinopathic patient. [electronic resource] by
- Cagliani, R
- Bardoni, A
- Sironi, M
- Fortunato, F
- Prelle, A
- Felisari, G
- Bonaglia, M C
- D'Angelo, M G
- Moggio, M
- Bresolin, N
- Comi, G P
Producer: 20030312
In:
Neuromuscular disorders : NMD vol. 13
Availability: No items available.
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16.
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Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia. [electronic resource] by
- Giorda, R
- Cerritello, A
- Bonaglia, M C
- Bova, S
- Lanzi, G
- Repetti, E
- Giglio, S
- Baschirotto, C
- Pramparo, T
- Avolio, L
- Bragheri, R
- Maraschio, P
- Zuffardi, O
Producer: 20040927
In:
Journal of medical genetics vol. 41
Availability: No items available.
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17.
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Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population. [electronic resource] by
- Cagliani, R
- Fortunato, F
- Giorda, R
- Rodolico, C
- Bonaglia, M C
- Sironi, M
- D'Angelo, M G
- Prelle, A
- Locatelli, F
- Toscano, A
- Bresolin, N
- Comi, G P
Producer: 20040226
In:
Neuromuscular disorders : NMD vol. 13
Availability: No items available.
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18.
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Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes. [electronic resource] by
- Aldred, M A
- Sanford, R O C
- Thomas, N S
- Barrow, M A
- Wilson, L C
- Brueton, L A
- Bonaglia, M C
- Hennekam, R C M
- Eng, C
- Dennis, N R
- Trembath, R C
Producer: 20040927
In:
Journal of medical genetics vol. 41
Availability: No items available.
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19.
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Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH. [electronic resource] by
- Vetro, A
- Goidin, D
- Lesende, I
- Limongelli, I
- Ranzani, G N
- Novara, F
- Bonaglia, M C
- Rinaldi, B
- Franchi, F
- Manolakos, E
- Lonardo, F
- Scarano, F
- Scarano, G
- Costantino, L
- Tedeschi, S
- Giglio, S
- Zuffardi, O
Producer: 20190911
In:
Clinical genetics vol. 93
Availability: No items available.
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20.
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Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects. [electronic resource] by
- Giglio, S
- Graw, S L
- Gimelli, G
- Pirola, B
- Varone, P
- Voullaire, L
- Lerzo, F
- Rossi, E
- Dellavecchia, C
- Bonaglia, M C
- Digilio, M C
- Giannotti, A
- Marino, B
- Carrozzo, R
- Korenberg, J R
- Danesino, C
- Sujansky, E
- Dallapiccola, B
- Zuffardi, O
Producer: 20000815
In:
Circulation vol. 102
Availability: No items available.
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