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F D Bricarelli

Showing results (21-30 of 34) with videos related to

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Human Genetics|January 1, 1985
Frequency of consanguineous marriages among parents and grandparents of Down patientsM Devoto, L Prosperi, F D Bricarelli, et al.
American Journal of Medical Genetics|July 12, 1996
Prenatal diagnosis of 30 fetuses at risk for fragile X syndromeM Grasso, L Perroni, S Colella, et al.
Journal of Medical Genetics|March 10, 2001
Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlationP C Mainardi, C Perfumo, A Calì, et al.
The Journal of Biological Chemistry|September 16, 2000
Caveolin-3 directly interacts with the C-terminal tail of beta -dystroglycan. Identification of a central WW-like domain within caveolin family membersF Sotgia, J K Lee, K Das, et al.
Neurology|April 4, 2000
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemiaI Carbone, C Bruno, F Sotgia, et al.
Cell|December 16, 1994
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9T Wagner, J Wirth, J Meyer, et al.
American Journal of Medical Genetics|July 9, 1999
Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patientsM Grasso, F Faravelli, C Lo Nigro, et al.
Human Genetics|January 1, 1981
Sex-reversed XY females with campomelic dysplasia are H-Y negativeF D Bricarelli, M Fraccaro, J Lindsten, et al.
Nature Genetics|April 16, 1998
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophyC Minetti, F Sotgia, C Bruno, et al.
Nature Genetics|January 4, 2001
X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfyR S Wildin, F Ramsdell, J Peake, et al.
Pageof 4

Showing results (21-30 of 34) with videos related to

Sort By:
Pageof 4
Human Genetics|January 1, 1985
Frequency of consanguineous marriages among parents and grandparents of Down patientsM Devoto, L Prosperi, F D Bricarelli, et al.
American Journal of Medical Genetics|July 12, 1996
Prenatal diagnosis of 30 fetuses at risk for fragile X syndromeM Grasso, L Perroni, S Colella, et al.
Journal of Medical Genetics|March 10, 2001
Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlationP C Mainardi, C Perfumo, A Calì, et al.
The Journal of Biological Chemistry|September 16, 2000
Caveolin-3 directly interacts with the C-terminal tail of beta -dystroglycan. Identification of a central WW-like domain within caveolin family membersF Sotgia, J K Lee, K Das, et al.
Neurology|April 4, 2000
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemiaI Carbone, C Bruno, F Sotgia, et al.
Cell|December 16, 1994
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9T Wagner, J Wirth, J Meyer, et al.
American Journal of Medical Genetics|July 9, 1999
Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patientsM Grasso, F Faravelli, C Lo Nigro, et al.
Human Genetics|January 1, 1981
Sex-reversed XY females with campomelic dysplasia are H-Y negativeF D Bricarelli, M Fraccaro, J Lindsten, et al.
Nature Genetics|April 16, 1998
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophyC Minetti, F Sotgia, C Bruno, et al.
Nature Genetics|January 4, 2001
X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfyR S Wildin, F Ramsdell, J Peake, et al.
Pageof 4