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H S Scott

Showing results (61-70 of 84) with videos related to

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European Journal of Immunology|August 15, 2000
RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouseM Heino, P Peterson, N Sillanpää, et al.
Human Genetics|December 18, 1998
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patientsM C Rosatelli, A Meloni, A Meloni, et al.
American Journal of Human Genetics|August 12, 1999
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutationsU Radhakrishna, D Bornholdt, H S Scott, et al.
Genomics|June 17, 2000
Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene familyU Aapola, K Kawasaki, H S Scott, et al.
Leukemia|October 28, 2015
Delayed diagnosis leading to accelerated-phase chronic eosinophilic leukemia due to a cytogenetically cryptic, imatinib-responsive TNIP1-PDFGRB fusion geneD M Ross, H K Altamura, C N Hahn, et al.
Human Mutation|July 20, 2001
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafnessS Masmoudi, S E Antonarakis, T Schwede, et al.
Human Genetics|April 3, 2001
Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domainsM Wattenhofer, K Shibuya, J Kudoh, et al.
American Journal of Human Genetics|June 13, 1998
A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onsetM D Lalioti, H S Scott, P Genton, et al.
Genomics|August 22, 2000
C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterningM Guipponi, K Brunschwig, Z Chamoun, et al.
Clinical and Experimental Immunology|June 26, 2007
Expression of autoimmune regulator gene (AIRE) and T regulatory cells in human thymomasS Scarpino, A Di Napoli, A Stoppacciaro, et al.
Pageof 9

Showing results (61-70 of 84) with videos related to

Sort By:
Pageof 9
European Journal of Immunology|August 15, 2000
RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouseM Heino, P Peterson, N Sillanpää, et al.
Human Genetics|December 18, 1998
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patientsM C Rosatelli, A Meloni, A Meloni, et al.
American Journal of Human Genetics|August 12, 1999
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutationsU Radhakrishna, D Bornholdt, H S Scott, et al.
Genomics|June 17, 2000
Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene familyU Aapola, K Kawasaki, H S Scott, et al.
Leukemia|October 28, 2015
Delayed diagnosis leading to accelerated-phase chronic eosinophilic leukemia due to a cytogenetically cryptic, imatinib-responsive TNIP1-PDFGRB fusion geneD M Ross, H K Altamura, C N Hahn, et al.
Human Mutation|July 20, 2001
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafnessS Masmoudi, S E Antonarakis, T Schwede, et al.
Human Genetics|April 3, 2001
Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domainsM Wattenhofer, K Shibuya, J Kudoh, et al.
American Journal of Human Genetics|June 13, 1998
A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onsetM D Lalioti, H S Scott, P Genton, et al.
Genomics|August 22, 2000
C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterningM Guipponi, K Brunschwig, Z Chamoun, et al.
Clinical and Experimental Immunology|June 26, 2007
Expression of autoimmune regulator gene (AIRE) and T regulatory cells in human thymomasS Scarpino, A Di Napoli, A Stoppacciaro, et al.
Pageof 9