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Results:
1-8
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Results: 8
Authors:
Trombetti, A
Bottani, A
George, F
Rizzoli, R
Citation: A. Trombetti et al., Hypoparathyroidism associated with aneurysm of the left subclavian artery (Kommerell's diverticulum) in an adult patient with a chromosome 22q11.2 deletion, J BONE MIN, 16(10), 2001, pp. 1926-1928
Authors:
Krantz, ID
Tonkin, E
Smith, M
Devoto, M
Bottani, A
Simpson, C
Hofreiter, M
Abraham, V
Jukofsky, L
Conti, BP
Strachan, T
Jackson, L
Citation: Id. Krantz et al., Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange Syndrome, AM J MED G, 101(2), 2001, pp. 120-129
Authors:
Blanck, C
Kohlhase, J
Engels, P
Burfeind, P
Engel, W
Bottani, A
Patel, MS
Kroes, HY
Cobben, JM
Citation: C. Blanck et al., Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome, J MED GENET, 37(4), 2000, pp. 303-307
Authors:
Kohler, A
Burkhard, P
Hefft, S
Bottani, A
Pizzolato, GP
Magistris, MR
Citation: A. Kohler et al., Proximal myotonic myopathy: Clinical, electrophysiological and pathological findings in a family, EUR NEUROL, 43(1), 2000, pp. 50-53
Authors:
DeLozier-Blanchet, CD
Haenggeli, CA
Bottani, A
Citation: Cd. Delozier-blanchet et al., MEHMO, a novel syndrome: assignment of disease locus to Xp21.1-p22.13, EUR J HUM G, 7(6), 1999, pp. 621-622
Authors:
Beghetti, M
Steinmann, B
Didier, D
Kalangos, A
Bottani, A
Citation: M. Beghetti et al., Early-onset familial dilatation of the ascending aorta, CARDIOLOGY, 92(1), 1999, pp. 68-70
Authors:
Paoloni-Giacobino, A
Bottani, A
Dahoun, SP
Citation: A. Paoloni-giacobino et al., Pure partial trisomy 5q33 -> 5q35 resulting from the adjacent-1 segregation of a paternal (5;14)(q33;p12) translocation, ANN GENET, 42(3), 1999, pp. 166-169
Authors:
Radhakrishna, U
Bornholdt, D
Scott, HS
Patel, UC
Rossier, C
Engel, H
Bottani, A
Chandal, D
Blouin, JL
Solanki, JV
Grzeschik, KH
Antonarakis, SE
Citation: U. Radhakrishna et al., The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations, AM J HU GEN, 65(3), 1999, pp. 645-655
Risultati:
1-8
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