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Author/Creator Maraschio, P

4. Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome). Issue 2 (24th September 2007)

Authors:
Hagleitner, M M; Lankester, A; Maraschio, P; Hultén, M; Fryns, J P; Schuetz, C; Gimelli, G; Davies, E G; Gennery, A; Belohradsky, B H; de Groot, R; Gerritsen, E J A; Mattina, T; Howard, P J; Fasth, A; Reisli, I; Furthner, D; Slatter, M A; Cant, A J; Cazzola, G
Journal:
Journal of medical genetics
Issue:
Volume 45:Issue 2(2008)
Page Start:
93
Record Type:
Journal Article
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5. Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. Issue 12 (31st August 2007)

Authors:
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
Journal:
Journal of medical genetics
Issue:
Volume 44:Issue 12(2007)
Page Start:
750
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

7. Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation. Issue 3 (15th November 2007)

Authors:
Rossi, E; Riegel, M; Messa, J; Gimelli, S; Maraschio, P; Ciccone, R; Stroppi, M; Riva, P; Perrotta, C S; Mattina, T; Memo, L; Baumer, A; Kucinskas, V; Castellan, C; Schinzel, A; Zuffardi, O
Journal:
Journal of medical genetics
Issue:
Volume 45:Issue 3(2008)
Page Start:
147
Record Type:
Journal Article
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8. Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression. Issue 9 (September 1998)

Authors:
Tupler, R; Barbierato, L; Memmi, M; Sewry, C A; De Grandis, D; Maraschio, P; Tiepolo, L; Ferlini, A
Journal:
Journal of medical genetics
Issue:
Volume 35:Issue 9(1998)
Page Start:
778
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗