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Human Genetics
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October 1, 1995
A common beta hexosaminidase gene mutation in adult Sandhoff disease patients
M Gomez-Lira, A Sangalli, M Mottes, et al.
Journal of Medical Genetics
|
December 1, 1994
Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation
M Gomez-Lira, A Sangalli, P F Pignatti, et al.
European Journal of Biochemistry
|
February 1, 1993
Osteogenesis imperfecta and type-I collagen mutations. A lethal variant caused by a Gly910-->Ala substitution in the alpha 1 (I) chain
M Valli, A Sangalli, A Rossi, et al.
European Annals of Allergy and Clinical Immunology
|
April 29, 2025
Anaphylaxis trend before and during pandemic: COVID-19 did not affect anaphylaxis frequency
A Sangalli, A Fasiello, V Pravettoni, et al.
Calcified Tissue International
|
May 23, 2002
Relationship among VDR (BsmI and FokI), COLIA1, and CTR polymorphisms with bone mass, bone turnover markers, and sex hormones in men
V Braga, A Sangalli, G Malerba, et al.
Human Genetics
|
July 1, 1992
Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine alpha 1(I) 901 substitution in a type-I collagen gene
M Mottes, A Sangalli, M Valli, et al.
Annals of the New York Academy of Sciences
|
December 13, 2005
Osteoporosis in beta-thalassemia: Clinical and genetic aspects
R Origa, E Fiumana, M R Gamberini, et al.
The Journal of Biological Chemistry
|
January 25, 1991
A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain
M Valli, M Mottes, R Tenni, et al.
Human Genetics
|
June 1, 1994
A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfecta
M Mottes, A Sangalli, M Valli, et al.
European Annals of Allergy and Clinical Immunology
|
September 3, 2025
Demographic and clinical characteristics of chronic histaminergic angioedema and chronic urticaria with angioedema, a multicenter Italian experience
S Sartorio, F Rivolta, A Tedeschi, 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 Genetics
|
October 1, 1995
A common beta hexosaminidase gene mutation in adult Sandhoff disease patients
M Gomez-Lira, A Sangalli, M Mottes, et al.
Journal of Medical Genetics
|
December 1, 1994
Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation
M Gomez-Lira, A Sangalli, P F Pignatti, et al.
European Journal of Biochemistry
|
February 1, 1993
Osteogenesis imperfecta and type-I collagen mutations. A lethal variant caused by a Gly910-->Ala substitution in the alpha 1 (I) chain
M Valli, A Sangalli, A Rossi, et al.
European Annals of Allergy and Clinical Immunology
|
April 29, 2025
Anaphylaxis trend before and during pandemic: COVID-19 did not affect anaphylaxis frequency
A Sangalli, A Fasiello, V Pravettoni, et al.
Calcified Tissue International
|
May 23, 2002
Relationship among VDR (BsmI and FokI), COLIA1, and CTR polymorphisms with bone mass, bone turnover markers, and sex hormones in men
V Braga, A Sangalli, G Malerba, et al.
Human Genetics
|
July 1, 1992
Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine alpha 1(I) 901 substitution in a type-I collagen gene
M Mottes, A Sangalli, M Valli, et al.
Annals of the New York Academy of Sciences
|
December 13, 2005
Osteoporosis in beta-thalassemia: Clinical and genetic aspects
R Origa, E Fiumana, M R Gamberini, et al.
The Journal of Biological Chemistry
|
January 25, 1991
A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain
M Valli, M Mottes, R Tenni, et al.
Human Genetics
|
June 1, 1994
A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfecta
M Mottes, A Sangalli, M Valli, et al.
European Annals of Allergy and Clinical Immunology
|
September 3, 2025
Demographic and clinical characteristics of chronic histaminergic angioedema and chronic urticaria with angioedema, a multicenter Italian experience
S Sartorio, F Rivolta, A Tedeschi, et al.
Page
of 3