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R Tupler

Showing results (11-20 of 35) with videos related to

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Annals of Human Genetics|July 1, 1992
Interphase cytogenetics of the ICF syndromeP Maraschio, M Cortinovis, E Dainotti, et al.
Journal of Medical Genetics|April 1, 1992
A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1R Tupler, P Maraschio, A Gerardo, et al.
Journal of Medical Genetics|July 1, 1989
Differential expression of the ICF (immunodeficiency, centromeric heterochromatin, facial anomalies) mutation in lymphocytes and fibroblastsP Maraschio, R Tupler, E Dainotti, et al.
American Journal of Medical Genetics|March 15, 1996
Mild phenotype associated with inv dup 8 (q21.2-q22.3) of maternal originR Tupler, E Pagliano, L Barbierato, et al.
Human Genetics|August 1, 1994
Balanced autosomal translocations and ovarian dysgenesisR Tupler, L Barbierato, D Larizza, et al.
Clinical Genetics|October 7, 1998
Involvement of 9q22.1-31.3 region in pyloric stenosisP Maraschio, E Maserati, L Seghezzi, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 20, 2003
An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the TREM2 geneD Soragna, L Papi, M T Ratti, et al.
European Journal of Pediatrics|September 15, 1999
Ring chromosome 9 with a 9p22.3-p24.3 duplicationL Seghezzi, P Maraschio, M Bozzola, et al.
Human Genetics|October 1, 1990
Deletion of specific sequences or modification of centromeric chromatin are responsible for Y chromosome centromere inactivationP Maraschio, O Zuffardi, A Caiulo, et al.
Annales De Genetique|February 16, 2000
Cerebellar dysgenesis and mental retardation associated with a complex chromosome rearrangementE Maserati, A Verri, L Seghezzi, et al.
Pageof 4

Showing results (11-20 of 35) with videos related to

Sort By:
Pageof 4
Annals of Human Genetics|July 1, 1992
Interphase cytogenetics of the ICF syndromeP Maraschio, M Cortinovis, E Dainotti, et al.
Journal of Medical Genetics|April 1, 1992
A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1R Tupler, P Maraschio, A Gerardo, et al.
Journal of Medical Genetics|July 1, 1989
Differential expression of the ICF (immunodeficiency, centromeric heterochromatin, facial anomalies) mutation in lymphocytes and fibroblastsP Maraschio, R Tupler, E Dainotti, et al.
American Journal of Medical Genetics|March 15, 1996
Mild phenotype associated with inv dup 8 (q21.2-q22.3) of maternal originR Tupler, E Pagliano, L Barbierato, et al.
Human Genetics|August 1, 1994
Balanced autosomal translocations and ovarian dysgenesisR Tupler, L Barbierato, D Larizza, et al.
Clinical Genetics|October 7, 1998
Involvement of 9q22.1-31.3 region in pyloric stenosisP Maraschio, E Maserati, L Seghezzi, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 20, 2003
An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the TREM2 geneD Soragna, L Papi, M T Ratti, et al.
European Journal of Pediatrics|September 15, 1999
Ring chromosome 9 with a 9p22.3-p24.3 duplicationL Seghezzi, P Maraschio, M Bozzola, et al.
Human Genetics|October 1, 1990
Deletion of specific sequences or modification of centromeric chromatin are responsible for Y chromosome centromere inactivationP Maraschio, O Zuffardi, A Caiulo, et al.
Annales De Genetique|February 16, 2000
Cerebellar dysgenesis and mental retardation associated with a complex chromosome rearrangementE Maserati, A Verri, L Seghezzi, et al.
Pageof 4