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B Horsthemke

Showing results (81-90 of 176) with videos related to

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Journal of Medical Genetics|February 1, 1995
DNA methylation based testing of 450 patients suspected of having Prader-Willi syndromeG Gillessen-Kaesbach, S Gross, S Kaya-Westerloh, et al.
Human Genetics|April 1, 1992
Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresisD Lohmann, B Horsthemke, G Gillessen-Kaesbach, et al.
Human Molecular Genetics|March 1, 1997
Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing methodM Zeschnigk, B Schmitz, B Dittrich, et al.
Human Molecular Genetics|December 1, 2001
The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3AM Runte, A Hüttenhofer, S Gross, et al.
Human Genetics|January 27, 2000
The EIF3S3 gene encoding the p40 subunit of the translation initiation factor eIF3 has eight exons and maps to the Langer-Giedion syndrome chromosome region on 8q24, but is not the TRPS1 geneO Schmidt, D von Holtum, S Gross, et al.
Journal of Medical Genetics|June 1, 1995
Identification of RB1 germline mutations in Argentinian families with sporadic bilateral retinoblastomaI Szijan, D R Lohmann, D L Parma, et al.
Human Genetics|November 1, 1994
Frequency and parental origin of hypermethylated RB1 alleles in retinoblastomaV Greger, N Debus, D Lohmann, et al.
Journal of Medical Genetics|April 5, 2005
Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couplesM Ludwig, A Katalinic, S Gross, et al.
American Journal of Human Genetics|April 3, 2001
Disruption of the bipartite imprinting center in a family with Angelman syndromeK Buiting, A Barnicoat, C Lich, et al.
European Journal of Biochemistry|April 1, 1987
Unequal crossing-over between two alu-repetitive DNA sequences in the low-density-lipoprotein-receptor gene. A possible mechanism for the defect in a patient with familial hypercholesterolaemiaB Horsthemke, U Beisiegel, A Dunning, et al.
Pageof 18

Showing results (81-90 of 176) with videos related to

Sort By:
Pageof 18
Journal of Medical Genetics|February 1, 1995
DNA methylation based testing of 450 patients suspected of having Prader-Willi syndromeG Gillessen-Kaesbach, S Gross, S Kaya-Westerloh, et al.
Human Genetics|April 1, 1992
Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresisD Lohmann, B Horsthemke, G Gillessen-Kaesbach, et al.
Human Molecular Genetics|March 1, 1997
Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing methodM Zeschnigk, B Schmitz, B Dittrich, et al.
Human Molecular Genetics|December 1, 2001
The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3AM Runte, A Hüttenhofer, S Gross, et al.
Human Genetics|January 27, 2000
The EIF3S3 gene encoding the p40 subunit of the translation initiation factor eIF3 has eight exons and maps to the Langer-Giedion syndrome chromosome region on 8q24, but is not the TRPS1 geneO Schmidt, D von Holtum, S Gross, et al.
Journal of Medical Genetics|June 1, 1995
Identification of RB1 germline mutations in Argentinian families with sporadic bilateral retinoblastomaI Szijan, D R Lohmann, D L Parma, et al.
Human Genetics|November 1, 1994
Frequency and parental origin of hypermethylated RB1 alleles in retinoblastomaV Greger, N Debus, D Lohmann, et al.
Journal of Medical Genetics|April 5, 2005
Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couplesM Ludwig, A Katalinic, S Gross, et al.
American Journal of Human Genetics|April 3, 2001
Disruption of the bipartite imprinting center in a family with Angelman syndromeK Buiting, A Barnicoat, C Lich, et al.
European Journal of Biochemistry|April 1, 1987
Unequal crossing-over between two alu-repetitive DNA sequences in the low-density-lipoprotein-receptor gene. A possible mechanism for the defect in a patient with familial hypercholesterolaemiaB Horsthemke, U Beisiegel, A Dunning, et al.
Pageof 18