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D Baralle

Showing results (1-10 of 21) with videos related to

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Lancet (London, England)|July 17, 2001
Chromosomal aberrations, subtelomeric defects, and mental retardationD Baralle
Clinical Dysmorphology|August 24, 2000
A case of the new overgrowth syndrome--macrocephaly with cutis marmorata, haemangioma and syndactylyD Baralle, H Firth
Journal of Medical Genetics|October 4, 2005
Splicing in action: assessing disease causing sequence changesD Baralle, M Baralle
American Journal of Medical Genetics|December 10, 1999
Craniomicromelic syndrome: report of a third caseD Baralle, H Firth
The FEBS Journal|January 20, 2010
Alternative splicing: good and bad effects of translationally silent substitutionsM Raponi, D Baralle
Human Mutation|February 14, 2006
Functional splicing assay shows a pathogenic intronic mutation in neurofibromatosis type 1 (NF1) due to intronic sequence exonizationM Raponi, M Upadhyaya, D Baralle
American Journal of Medical Genetics|February 24, 2001
Léri-Weill syndrome associated with a pseudodicentric X;Y translocation chromosome and skewed X-inactivation: implications for genetic counsellingD Baralle, L R Willatt, D J Shears
Journal of Neurology, Neurosurgery, and Psychiatry|October 25, 2002
Myoclonic movement disorder associated with microdeletion of chromosome 22q11D Baralle, D Trump, C Ffrench-Constant, et al.
Journal of Medical Genetics|October 4, 2000
Benign familial infantile convulsions: report of a UK family and confirmation of genetic heterogeneityD Baralle, A M Dearlove, R Beach, et al.
Scientific Reports|March 8, 2017
Human NDE1 splicing and mammalian brain developmentS Mosca, M Raponi, A Meneghello, et al.
Pageof 3

Showing results (1-10 of 21) with videos related to

Sort By:
Pageof 3
Lancet (London, England)|July 17, 2001
Chromosomal aberrations, subtelomeric defects, and mental retardationD Baralle
Clinical Dysmorphology|August 24, 2000
A case of the new overgrowth syndrome--macrocephaly with cutis marmorata, haemangioma and syndactylyD Baralle, H Firth
Journal of Medical Genetics|October 4, 2005
Splicing in action: assessing disease causing sequence changesD Baralle, M Baralle
American Journal of Medical Genetics|December 10, 1999
Craniomicromelic syndrome: report of a third caseD Baralle, H Firth
The FEBS Journal|January 20, 2010
Alternative splicing: good and bad effects of translationally silent substitutionsM Raponi, D Baralle
Human Mutation|February 14, 2006
Functional splicing assay shows a pathogenic intronic mutation in neurofibromatosis type 1 (NF1) due to intronic sequence exonizationM Raponi, M Upadhyaya, D Baralle
American Journal of Medical Genetics|February 24, 2001
Léri-Weill syndrome associated with a pseudodicentric X;Y translocation chromosome and skewed X-inactivation: implications for genetic counsellingD Baralle, L R Willatt, D J Shears
Journal of Neurology, Neurosurgery, and Psychiatry|October 25, 2002
Myoclonic movement disorder associated with microdeletion of chromosome 22q11D Baralle, D Trump, C Ffrench-Constant, et al.
Journal of Medical Genetics|October 4, 2000
Benign familial infantile convulsions: report of a UK family and confirmation of genetic heterogeneityD Baralle, A M Dearlove, R Beach, et al.
Scientific Reports|March 8, 2017
Human NDE1 splicing and mammalian brain developmentS Mosca, M Raponi, A Meneghello, et al.
Pageof 3