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M Mottes

Showing results (21-30 of 53) with videos related to

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American Journal of Medical Genetics|May 3, 1996
Deficient expression of the small proteoglycan decorin in a case of severe/lethal osteogenesis imperfectaK M Dyne, M Valli, A Forlino, et al.
Molecular and Cellular Probes|March 17, 1998
A novel mutation which represents the fifth non-pathogenic polymorphism in the coding sequence of the arylsulfatase A geneC Perusi, M Gomez-Lira, M Mottes, et al.
Human Heredity|February 25, 2000
Allelic frequencies of FBN1 gene polymorphisms and genetic analysis of italian families with Marfan syndromeM Mottes, S Mirandola, F Rigatelli, et al.
American Journal of Medical Genetics|August 22, 1997
Mutation producing alternative splicing of exon 26 in the COL1A2 gene causes type IV osteogenesis imperfecta with intrafamilial clinical variabilityF Zolezzi, M Valli, M Clementi, et al.
American Journal of Medical Genetics|January 9, 2001
Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24A Floreani, M Molaro, M Mottes, et al.
Molecular and Cellular Probes|April 9, 2001
A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff diseaseM Gomez-Lira, M Mottes, C Perusi, et al.
Clinical Genetics|August 2, 2006
Osteogenesis imperfecta: clinical, biochemical and molecular findingsG Venturi, E Tedeschi, M Mottes, et al.
Human Genetics|May 26, 1998
Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutationM Gomez-Lira, C Perusi, M Mottes, et al.
Genetic Counseling (Geneva, Switzerland)|August 2, 2002
Linkage analysis for prenatal diagnosis in a familial case of Stickler syndromeV Lisi, A Guala, A Lopez, et al.
Journal of the Neurological Sciences|July 30, 1999
Two novel frameshift mutations in the adrenoleukodystrophy gene in Italian patientsM Gomez-Lira, C Perusi, M Mottes, et al.
Pageof 6

Showing results (21-30 of 53) with videos related to

Sort By:
Pageof 6
American Journal of Medical Genetics|May 3, 1996
Deficient expression of the small proteoglycan decorin in a case of severe/lethal osteogenesis imperfectaK M Dyne, M Valli, A Forlino, et al.
Molecular and Cellular Probes|March 17, 1998
A novel mutation which represents the fifth non-pathogenic polymorphism in the coding sequence of the arylsulfatase A geneC Perusi, M Gomez-Lira, M Mottes, et al.
Human Heredity|February 25, 2000
Allelic frequencies of FBN1 gene polymorphisms and genetic analysis of italian families with Marfan syndromeM Mottes, S Mirandola, F Rigatelli, et al.
American Journal of Medical Genetics|August 22, 1997
Mutation producing alternative splicing of exon 26 in the COL1A2 gene causes type IV osteogenesis imperfecta with intrafamilial clinical variabilityF Zolezzi, M Valli, M Clementi, et al.
American Journal of Medical Genetics|January 9, 2001
Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24A Floreani, M Molaro, M Mottes, et al.
Molecular and Cellular Probes|April 9, 2001
A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff diseaseM Gomez-Lira, M Mottes, C Perusi, et al.
Clinical Genetics|August 2, 2006
Osteogenesis imperfecta: clinical, biochemical and molecular findingsG Venturi, E Tedeschi, M Mottes, et al.
Human Genetics|May 26, 1998
Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutationM Gomez-Lira, C Perusi, M Mottes, et al.
Genetic Counseling (Geneva, Switzerland)|August 2, 2002
Linkage analysis for prenatal diagnosis in a familial case of Stickler syndromeV Lisi, A Guala, A Lopez, et al.
Journal of the Neurological Sciences|July 30, 1999
Two novel frameshift mutations in the adrenoleukodystrophy gene in Italian patientsM Gomez-Lira, C Perusi, M Mottes, et al.
Pageof 6