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A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency. [electronic resource] by
- Paganini, I
- Sestini, R
- Capone, G L
- Putignano, A L
- Contini, E
- Giotti, I
- Gensini, F
- Marozza, A
- Barilaro, A
- Porfirio, B
- Papi, L
Producer: 20180703
In:
Clinical genetics vol. 92
Availability: No items available.
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9.
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Emerging issues on selection criteria of levodopa carbidopa infusion therapy: considerations on outcome of 28 consecutive patients. [electronic resource] by
- Sensi, Mariachiara
- Preda, F
- Trevisani, L
- Contini, E
- Gragnaniello, D
- Capone, J G
- Sette, E
- Golfre-Andreasi, N
- Tugnoli, V
- Tola, M R
- Quatrale, R
Producer: 20150107
In:
Journal of neural transmission (Vienna, Austria : 1996) vol. 121
Availability: No items available.
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Clinical and genetic study of 46 Italian patients with primary lymphedema. [electronic resource] by
- Michelini, S
- Degiorgio, D
- Cestari, M
- Corda, D
- Ricci, M
- Cardone, M
- Mander, A
- Famoso, L
- Contini, E
- Serrani, R
- Pinelli, L
- Cecchin, S
- Bertelli, M
Producer: 20120724
In:
Lymphology vol. 45
Availability: No items available.
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11.
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Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest. [electronic resource] by
- Riera-Escamilla, A
- Enguita-Marruedo, A
- Moreno-Mendoza, D
- Chianese, C
- Sleddens-Linkels, E
- Contini, E
- Benelli, M
- Natali, A
- Colpi, G M
- Ruiz-Castañé, E
- Maggi, M
- Baarends, W M
- Krausz, C
Producer: 20200715
In:
Human reproduction (Oxford, England) vol. 34
Availability: No items available.
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