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Bombieri, C
104
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Online (104)
Mediatypes
Articles (Online) (36)
Bookchapter (Online) (2)
OpenAccess-fulltext (66)
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?
1
Recommendations for the classification of diseases as CFTR-..:
Bombieri, C.
;
Claustres, M.
;
De Boeck, K.
...
Journal of Cystic Fibrosis. 10 (2011) - p. S86-S102 , 2011
Link:
https://doi.org/10.1016/..
?
2
New putative cis-acting regulatory variations in the CFTR g..:
Viart, V.
;
Bombieri, C.
;
Lopez, E.
...
Journal of Cystic Fibrosis. 8 (2009) - p. S1 , 2009
Link:
https://doi.org/10.1016/..
?
3
EUROPEAN CYSTIC FIBROSIS SOCIETY CONSENSUS ON GENETIC TESTI..:
Schwarz, M.
;
Castellani, C.
;
Cuppens, H.
...
Journal of Cystic Fibrosis. 7 (2008) - p. S7 , 2008
Link:
https://doi.org/10.1016/..
?
4
Epidemiology and a novel procedure for large scale analysis..:
Tomaiuolo, R.
;
Sangiuolo, F.
;
Bombieri, C.
...
Journal of Cystic Fibrosis. 7 (2008) 5 - p. 347-351 , 2008
Link:
https://doi.org/10.1016/..
?
5
Consensus on the use and interpretation of cystic fibrosis ..:
Castellani, C.
;
Cuppens, H.
;
Macek Jr., M.
...
Journal of Cystic Fibrosis. 7 (2008) 3 - p. 179-196 , 2008
Link:
https://doi.org/10.1016/..
?
6
The role of TGFbetal as modifier gene in Italian cystic fib..:
Bettin, M.D.
;
Bombieri, C.
;
Malerba, G.
...
Journal of Cystic Fibrosis. 7 (2008) - p. S2 , 2008
Link:
https://doi.org/10.1016/..
?
7
Highly preferential association of NonF508del CF mutations ..:
Ciminelli, B.M.
;
Bonizzato, A.
;
Bombieri, C.
...
Journal of Cystic Fibrosis. 6 (2007) 1 - p. 15-22 , 2007
Link:
https://doi.org/10.1016/..
?
8
A new approach for identifying non-pathogenic mutations. An..:
Bombieri, C.
;
Giorgi, S.
;
Carles, S.
...
Human Genetics. 106 (2000) 2 - p. 172-178 , 2000
Link:
https://doi.org/10.1007/..
?
9
A new approach for identifying non-pathogenic mutations. An..:
Bombieri, C.
;
Giorgi, S.
;
Carles, S.
...
Human Genetics. 106 (2000) 2 - p. 172-178 , 2000
Link:
https://doi.org/10.1007/..
?
10
α1-Antitrypsin TAQ I polymorphism and α1-antichymotrypsin m..:
Benetazzo, M.G.
;
Gilè, L.S.
;
Bombieri, C.
...
Respiratory Medicine. 93 (1999) 9 - p. 648-654 , 1999
Link:
https://doi.org/10.1016/..
?
11
Complete mutational screening of the CFTR gene in 120 patie..:
Bombieri, C.
;
Benetazzo, Mariagiovanna
;
Saccomani, Arianna
...
Human Genetics. 103 (1998) 6 - p. 718-722 , 1998
Link:
https://doi.org/10.1007/..
?
12
Complete detection of mutations in cystic fibrosis patients..:
Mercier, B.
;
Ragu�n�s, O.
;
Estivill, X.
...
Human Genetics. 94 (1994) 6 - p. , 1994
Link:
https://doi.org/10.1007/..
?
13
Screening of 62 mutations in a cohort of cystic fibrosis pa..:
Gasparini, P.
;
Marigo, C.
;
Bisceglia, G.
...
Human Mutation. 2 (1993) 5 - p. 389-394 , 1993
Link:
https://doi.org/10.1002/..
?
14
Whole-Genome Sequencing Coupled to Imputation Discovers Gen..:
Tachmazidou, I
;
Suveges, D
;
Min, JL
...
AMERICAN JOURNAL OF HUMAN GENETICS. , 2018
Link:
http://qmro.qmul.ac.uk/x..
?
15
Refining the accuracy of validated target identification th..:
Mahajan, A
;
Wessel, J
;
Willems, SM
...
https://discovery.ucl.ac.uk/id/eprint/10056104/1/Eastwood_ExTexT2D%20Text.pdf. , 2018
Link:
https://discovery.ucl.ac..
1-15