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Human Mutation
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January 1, 1992
Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes
L Cremonesi, M Ferrari, E Belloni, et al.
Acta Universitatis Carolinae. Medica
|
January 1, 1990
Prevention of cystic fibrosis in Italian families by DNA studies
M Ferrari, L Cremonesi, L Ruocco, et al.
American Journal of Human Genetics
|
July 1, 1988
Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: a collaborative study
X Estivill, M Farrall, R Williamson, et al.
European Journal of Endocrinology
|
February 27, 2007
Spontaneous hypoglycemia in patients with cystic fibrosis
A Battezzati, P M Battezzati, D Costantini, et al.
Clinical Genetics
|
February 19, 2008
Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions
V Paracchini, M Seia, D Coviello, et al.
Acta Universitatis Carolinae. Medica
|
January 1, 1990
New restriction fragment length polymorphism (probe E9) reveals the highest linkage disequilibrium in Italian CF patients
M Devoto, L De Benedetti, P Ronchetto, et al.
Genomics
|
November 1, 1989
Haplotypes in cystic fibrosis patients with or without pancreatic insufficiency from four European populations
M Devoto, L De Benedetti, M Seia, et al.
Minerva Cardiology and Angiology
|
October 1, 2024
Atrial fibrillation in transthyretin amyloidotic cardiomyopathy: prevalence and echocardiographic predictors
María R Rodríguez, Ana Spaccavento, Mirta Diez, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
February 25, 2010
Association of the CLCA1 p.S357N variant with meconium ileus in European patients with cystic fibrosis
H P J van der Doef, M G Slieker, D Staab, et al.
Biomed Research International
|
March 14, 2013
The Italian National External quality assessment program in molecular genetic testing: results of the VII round (2010-2011)
F Censi, F Tosto, G Floridia, et al.
Page
of 3
Search research articles
Search
Showing results (11-20 of 21) with videos related to
Sort By:
Page
of 3
Human Mutation
|
January 1, 1992
Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes
L Cremonesi, M Ferrari, E Belloni, et al.
Acta Universitatis Carolinae. Medica
|
January 1, 1990
Prevention of cystic fibrosis in Italian families by DNA studies
M Ferrari, L Cremonesi, L Ruocco, et al.
American Journal of Human Genetics
|
July 1, 1988
Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: a collaborative study
X Estivill, M Farrall, R Williamson, et al.
European Journal of Endocrinology
|
February 27, 2007
Spontaneous hypoglycemia in patients with cystic fibrosis
A Battezzati, P M Battezzati, D Costantini, et al.
Clinical Genetics
|
February 19, 2008
Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions
V Paracchini, M Seia, D Coviello, et al.
Acta Universitatis Carolinae. Medica
|
January 1, 1990
New restriction fragment length polymorphism (probe E9) reveals the highest linkage disequilibrium in Italian CF patients
M Devoto, L De Benedetti, P Ronchetto, et al.
Genomics
|
November 1, 1989
Haplotypes in cystic fibrosis patients with or without pancreatic insufficiency from four European populations
M Devoto, L De Benedetti, M Seia, et al.
Minerva Cardiology and Angiology
|
October 1, 2024
Atrial fibrillation in transthyretin amyloidotic cardiomyopathy: prevalence and echocardiographic predictors
María R Rodríguez, Ana Spaccavento, Mirta Diez, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
February 25, 2010
Association of the CLCA1 p.S357N variant with meconium ileus in European patients with cystic fibrosis
H P J van der Doef, M G Slieker, D Staab, et al.
Biomed Research International
|
March 14, 2013
The Italian National External quality assessment program in molecular genetic testing: results of the VII round (2010-2011)
F Censi, F Tosto, G Floridia, et al.
Page
of 3