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Showing results (341-350 of 368) with videos related to

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American Journal of Medical Genetics. Part A|February 14, 2006
Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocationPaweł Stankiewicz, Alma Kuechler, C Daniel Eller, et al.
Human Molecular Genetics|November 3, 2012
The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sitesJasmin Beygo, Valentina Citro, Angela Sparago, et al.
Human Molecular Genetics|June 13, 1998
Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombinationW P Robinson, B D Kuchinka, F Bernasconi, et al.
European Journal of Human Genetics : EJHG|June 22, 2017
New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndromeJasmin Beygo, Alma Küchler, Gabriele Gillessen-Kaesbach, et al.
Cancer Genetics and Cytogenetics|October 6, 1997
Hypermethylation in the retinoblastoma gene is associated with unilateral, sporadic retinoblastomaN Ohtani-Fujita, T P Dryja, J M Rapaport, et al.
Epigenomics|June 21, 2016
Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbancesSusanne Bens, Julia Kolarova, Jasmin Beygo, et al.
Genes|July 2, 2021
The Diagnostic Journey of a Patient with Prader-Willi-Like Syndrome and a Unique Homozygous <i>SNURF-SNRPN</i> Variant; Bio-Molecular Analysis and Review of the LiteratureKarlijn Pellikaan, Geeske M van Woerden, Lotte Kleinendorst, et al.
American Journal of Medical Genetics|January 20, 1997
Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutationS Saitoh, K Buiting, S B Cassidy, et al.
Clinical Epigenetics|January 16, 2024
Pancreatic cancer acquires resistance to MAPK pathway inhibition by clonal expansion and adaptive DNA hypermethylationLaura K Godfrey, Jan Forster, Sven-Thorsten Liffers, et al.
Journal of Medical Genetics|April 12, 2014
A familial disorder of altered DNA-methylationAlmuth Caliebe, Julia Richter, Ole Ammerpohl, et al.
Pageof 37

Showing results (341-350 of 368) with videos related to

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Pageof 37
American Journal of Medical Genetics. Part A|February 14, 2006
Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocationPaweł Stankiewicz, Alma Kuechler, C Daniel Eller, et al.
Human Molecular Genetics|November 3, 2012
The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sitesJasmin Beygo, Valentina Citro, Angela Sparago, et al.
Human Molecular Genetics|June 13, 1998
Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombinationW P Robinson, B D Kuchinka, F Bernasconi, et al.
European Journal of Human Genetics : EJHG|June 22, 2017
New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndromeJasmin Beygo, Alma Küchler, Gabriele Gillessen-Kaesbach, et al.
Cancer Genetics and Cytogenetics|October 6, 1997
Hypermethylation in the retinoblastoma gene is associated with unilateral, sporadic retinoblastomaN Ohtani-Fujita, T P Dryja, J M Rapaport, et al.
Epigenomics|June 21, 2016
Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbancesSusanne Bens, Julia Kolarova, Jasmin Beygo, et al.
Genes|July 2, 2021
The Diagnostic Journey of a Patient with Prader-Willi-Like Syndrome and a Unique Homozygous <i>SNURF-SNRPN</i> Variant; Bio-Molecular Analysis and Review of the LiteratureKarlijn Pellikaan, Geeske M van Woerden, Lotte Kleinendorst, et al.
American Journal of Medical Genetics|January 20, 1997
Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutationS Saitoh, K Buiting, S B Cassidy, et al.
Clinical Epigenetics|January 16, 2024
Pancreatic cancer acquires resistance to MAPK pathway inhibition by clonal expansion and adaptive DNA hypermethylationLaura K Godfrey, Jan Forster, Sven-Thorsten Liffers, et al.
Journal of Medical Genetics|April 12, 2014
A familial disorder of altered DNA-methylationAlmuth Caliebe, Julia Richter, Ole Ammerpohl, et al.
Pageof 37