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M Mottes

Showing results (31-40 of 53) with videos related to

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Human Genetics|October 1, 1995
A common beta hexosaminidase gene mutation in adult Sandhoff disease patientsM Gomez-Lira, A Sangalli, M Mottes, et al.
Human Molecular Genetics|December 1, 1994
Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helixA Forlino, F Zolezzi, M Valli, et al.
The Journal of Pediatrics|September 1, 1996
Growth hormone treatment in osteogenesis imperfecta with quantitative defect of type I collagen synthesisF Antoniazzi, F Bertoldo, M Mottes, et al.
European Journal of Biochemistry|October 1, 1993
Gly85 to Val substitution in pro alpha 1(I) chain causes mild osteogenesis imperfecta and introduces a susceptibility to protease digestionM Valli, F Zolezzi, M Mottes, et al.
American Journal of Medical Genetics|February 25, 1998
Splicing mutation causes infantile Sandhoff diseaseM Gomez-Lira, C Perusi, M Mottes, et al.
Pituitary|December 8, 2017
Bone histomorphometry in acromegaly patients with fragility vertebral fracturesL Dalle Carbonare, V Micheletti, E Cosaro, 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 hybridisationM Gomez-Lira, A Sangalli, P F Pignatti, et al.
Human Mutation|January 1, 1995
A 931 + 2T-->C transition in one COL1A2 allele causes exon 16 skipping in PRO alpha 2(I) mRNA and produces moderately severe OIF Zolezzi, A Forlino, M Mottes, 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) chainM Valli, A Sangalli, A Rossi, 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 geneM Mottes, A Sangalli, M Valli, et al.
Pageof 6

Showing results (31-40 of 53) with videos related to

Sort By:
Pageof 6
Human Genetics|October 1, 1995
A common beta hexosaminidase gene mutation in adult Sandhoff disease patientsM Gomez-Lira, A Sangalli, M Mottes, et al.
Human Molecular Genetics|December 1, 1994
Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helixA Forlino, F Zolezzi, M Valli, et al.
The Journal of Pediatrics|September 1, 1996
Growth hormone treatment in osteogenesis imperfecta with quantitative defect of type I collagen synthesisF Antoniazzi, F Bertoldo, M Mottes, et al.
European Journal of Biochemistry|October 1, 1993
Gly85 to Val substitution in pro alpha 1(I) chain causes mild osteogenesis imperfecta and introduces a susceptibility to protease digestionM Valli, F Zolezzi, M Mottes, et al.
American Journal of Medical Genetics|February 25, 1998
Splicing mutation causes infantile Sandhoff diseaseM Gomez-Lira, C Perusi, M Mottes, et al.
Pituitary|December 8, 2017
Bone histomorphometry in acromegaly patients with fragility vertebral fracturesL Dalle Carbonare, V Micheletti, E Cosaro, 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 hybridisationM Gomez-Lira, A Sangalli, P F Pignatti, et al.
Human Mutation|January 1, 1995
A 931 + 2T-->C transition in one COL1A2 allele causes exon 16 skipping in PRO alpha 2(I) mRNA and produces moderately severe OIF Zolezzi, A Forlino, M Mottes, 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) chainM Valli, A Sangalli, A Rossi, 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 geneM Mottes, A Sangalli, M Valli, et al.
Pageof 6