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M L Mostacciuolo

Showing results (21-30 of 58) with videos related to

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Human Genetics|March 1, 1996
Genetic epidemiology of congenital muscular dystrophy in a sample from north-east ItalyM L Mostacciuolo, M Miorin, F Martinello, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|July 4, 2006
A novel missense mutation in the L1CAM gene in a boy with L1 diseaseA Simonati, F Boaretto, A Vettori, et al.
Molecular Neurobiology|February 8, 2018
Rare Risk Variants Identification by Identity-by-Descent Mapping and Whole-Exome Sequencing Implicates Neuronal Development Pathways in Schizophrenia and Bipolar DisorderC Salvoro, S Bortoluzzi, A Coppe, et al.
American Journal of Medical Genetics|March 1, 1994
Occurrence of two different intragenic deletions in two male relatives affected with Duchenne muscular dystrophyM L Mostacciuolo, M Miorin, L Vitiello, et al.
Human Molecular Genetics|August 1, 1992
A 3' consensus splice mutation in the human dystrophin gene detected by a screening for intra-exonic deletionsF A Saad, L Vitiello, L Merlini, et al.
Advances in Neurology|January 1, 1988
Heterogeneity of Charcot-Marie-Tooth disease suggested by a linkage studyG Micaglio, P Fardin, M Battilana, et al.
Journal of Medical Genetics|February 1, 1992
Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patientsL Vitiello, M L Mostacciuolo, S Oliviero, et al.
Journal of Medical Genetics|November 1, 1994
Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patientsF Schiavon, M L Mostacciuolo, F Saad, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|October 18, 2007
A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern ItalyM Muglia, G Vazza, A Patitucci, et al.
Human Genetics|July 1, 1994
A study on duplications of the dystrophin gene: evidence of a geographical difference in the distribution of breakpoints by intronF Galvagni, F A Saad, G A Danieli, et al.
Pageof 6

Showing results (21-30 of 58) with videos related to

Sort By:
Pageof 6
Human Genetics|March 1, 1996
Genetic epidemiology of congenital muscular dystrophy in a sample from north-east ItalyM L Mostacciuolo, M Miorin, F Martinello, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|July 4, 2006
A novel missense mutation in the L1CAM gene in a boy with L1 diseaseA Simonati, F Boaretto, A Vettori, et al.
Molecular Neurobiology|February 8, 2018
Rare Risk Variants Identification by Identity-by-Descent Mapping and Whole-Exome Sequencing Implicates Neuronal Development Pathways in Schizophrenia and Bipolar DisorderC Salvoro, S Bortoluzzi, A Coppe, et al.
American Journal of Medical Genetics|March 1, 1994
Occurrence of two different intragenic deletions in two male relatives affected with Duchenne muscular dystrophyM L Mostacciuolo, M Miorin, L Vitiello, et al.
Human Molecular Genetics|August 1, 1992
A 3' consensus splice mutation in the human dystrophin gene detected by a screening for intra-exonic deletionsF A Saad, L Vitiello, L Merlini, et al.
Advances in Neurology|January 1, 1988
Heterogeneity of Charcot-Marie-Tooth disease suggested by a linkage studyG Micaglio, P Fardin, M Battilana, et al.
Journal of Medical Genetics|February 1, 1992
Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patientsL Vitiello, M L Mostacciuolo, S Oliviero, et al.
Journal of Medical Genetics|November 1, 1994
Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patientsF Schiavon, M L Mostacciuolo, F Saad, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|October 18, 2007
A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern ItalyM Muglia, G Vazza, A Patitucci, et al.
Human Genetics|July 1, 1994
A study on duplications of the dystrophin gene: evidence of a geographical difference in the distribution of breakpoints by intronF Galvagni, F A Saad, G A Danieli, et al.
Pageof 6