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Thomas Eggermann

Showing results (41-50 of 269) with videos related to

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Epigenomics|December 1, 2011
Disturbed methylation at multiple imprinted loci: an increasing observation in imprinting disordersThomas Eggermann, Isabelle Leisten, Gerhard Binder, et al.
American Journal of Medical Genetics. Part A|October 9, 2015
No major contribution of IGF2 variants to the etiology of sporadic 11p15-associated imprinting disordersAnne Müller, Lukas Soellner, Gerhard Binder, et al.
Expert Review of Molecular Diagnostics|June 19, 2012
Epigenetic and genetic diagnosis of Silver-Russell syndromeThomas Eggermann, Sabrina Spengler, Magdalena Gogiel, et al.
European Journal of Medical Genetics|October 3, 2020
Molecular characterization of temple syndrome families with 14q32 epimutationsJohanna Brück, Matthias Begemann, Daniela Dey, et al.
Klinische Padiatrie|April 17, 2018
[Beckwith-Wiedemann Syndrome (BWS) Current Status of Diagnosis and Clinical Management: Summary of the First International Consensus Statement]Miriam Elbracht, Dirk Prawitt, Rebekka Nemetschek, et al.
American Journal of Medical Genetics. Part A|January 17, 2012
Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylationMatthias Begemann, Sabrina Spengler, Ulrike Kordass, et al.
BMC Nephrology|October 22, 2018
No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuriaKathrin Olschok, Udo Vester, Sven Lahme, et al.
Clinical Genetics|January 13, 2026
Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype-Phenotype CorrelationAnastasia Maria Licata, Elke Botzenhart, Katja Kloth-Stachnau, et al.
Journal of Medical Genetics|May 25, 2020
Paternal 132 bp deletion affecting <i>KCNQ1OT1</i> in 11p15.5 is associated with growth retardation but does not affect imprintingThomas Eggermann, Florian Kraft, Eva Lausberg, et al.
European Journal of Medical Genetics|July 28, 2009
Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutationsSabrina Spengler, Magdalena Gogiel, Nadine Schönherr, et al.
Pageof 27

Showing results (41-50 of 269) with videos related to

Sort By:
Pageof 27
Epigenomics|December 1, 2011
Disturbed methylation at multiple imprinted loci: an increasing observation in imprinting disordersThomas Eggermann, Isabelle Leisten, Gerhard Binder, et al.
American Journal of Medical Genetics. Part A|October 9, 2015
No major contribution of IGF2 variants to the etiology of sporadic 11p15-associated imprinting disordersAnne Müller, Lukas Soellner, Gerhard Binder, et al.
Expert Review of Molecular Diagnostics|June 19, 2012
Epigenetic and genetic diagnosis of Silver-Russell syndromeThomas Eggermann, Sabrina Spengler, Magdalena Gogiel, et al.
European Journal of Medical Genetics|October 3, 2020
Molecular characterization of temple syndrome families with 14q32 epimutationsJohanna Brück, Matthias Begemann, Daniela Dey, et al.
Klinische Padiatrie|April 17, 2018
[Beckwith-Wiedemann Syndrome (BWS) Current Status of Diagnosis and Clinical Management: Summary of the First International Consensus Statement]Miriam Elbracht, Dirk Prawitt, Rebekka Nemetschek, et al.
American Journal of Medical Genetics. Part A|January 17, 2012
Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylationMatthias Begemann, Sabrina Spengler, Ulrike Kordass, et al.
BMC Nephrology|October 22, 2018
No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuriaKathrin Olschok, Udo Vester, Sven Lahme, et al.
Clinical Genetics|January 13, 2026
Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype-Phenotype CorrelationAnastasia Maria Licata, Elke Botzenhart, Katja Kloth-Stachnau, et al.
Journal of Medical Genetics|May 25, 2020
Paternal 132 bp deletion affecting <i>KCNQ1OT1</i> in 11p15.5 is associated with growth retardation but does not affect imprintingThomas Eggermann, Florian Kraft, Eva Lausberg, et al.
European Journal of Medical Genetics|July 28, 2009
Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutationsSabrina Spengler, Magdalena Gogiel, Nadine Schönherr, et al.
Pageof 27