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Miriam Elbracht

Showing results (1-10 of 99) with videos related to

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Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V|July 21, 2025
Editorial - Patient perspectives on new therapies for genetic diseasesMiriam Elbracht, Christiane Zweier, Ilona Krey-Grauert
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V|July 21, 2025
Precision medicineChristiane Zweier, Miriam Elbracht, Ilona Krey-Grauert
American Journal of Medical Genetics. Part A|August 29, 2020
Patient with an autosomal-recessive MBTPS1-linked phenotype and clinical features of Silver-Russell syndromeRobert Meyer, Miriam Elbracht, Thomas Opladen, et al.
European Journal of Medical Genetics|May 18, 2019
Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variationsThomas Eggermann, Matthias Begemann, Ingo Kurth, et al.
European Journal of Human Genetics : EJHG|November 22, 2020
Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same familyThomas Eggermann, Gundula Kadgien, Matthias Begemann, et al.
American Journal of Medical Genetics. Part A|March 31, 2015
A familial GLI2 deletion (2q14.2) not associated with the holoprosencephaly syndrome phenotypeUlrike Kordaß, Carmen Schröder, Miriam Elbracht, et al.
Molecular and Cellular Probes|January 6, 2019
Next generation sequencing and imprinting disorders: Current applications and future perspectives: Lessons from Silver-Russell syndromeLea Neuheuser, Robert Meyer, Matthias Begemann, 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.
NAR Genomics and Bioinformatics|July 25, 2025
Utilizing protein structure graph embeddings to predict the pathogenicity of missense variantsMartin Danner, Matthias Begemann, Miriam Elbracht, 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.
Pageof 10

Showing results (1-10 of 99) with videos related to

Sort By:
Pageof 10
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V|July 21, 2025
Editorial - Patient perspectives on new therapies for genetic diseasesMiriam Elbracht, Christiane Zweier, Ilona Krey-Grauert
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V|July 21, 2025
Precision medicineChristiane Zweier, Miriam Elbracht, Ilona Krey-Grauert
American Journal of Medical Genetics. Part A|August 29, 2020
Patient with an autosomal-recessive MBTPS1-linked phenotype and clinical features of Silver-Russell syndromeRobert Meyer, Miriam Elbracht, Thomas Opladen, et al.
European Journal of Medical Genetics|May 18, 2019
Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variationsThomas Eggermann, Matthias Begemann, Ingo Kurth, et al.
European Journal of Human Genetics : EJHG|November 22, 2020
Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same familyThomas Eggermann, Gundula Kadgien, Matthias Begemann, et al.
American Journal of Medical Genetics. Part A|March 31, 2015
A familial GLI2 deletion (2q14.2) not associated with the holoprosencephaly syndrome phenotypeUlrike Kordaß, Carmen Schröder, Miriam Elbracht, et al.
Molecular and Cellular Probes|January 6, 2019
Next generation sequencing and imprinting disorders: Current applications and future perspectives: Lessons from Silver-Russell syndromeLea Neuheuser, Robert Meyer, Matthias Begemann, 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.
NAR Genomics and Bioinformatics|July 25, 2025
Utilizing protein structure graph embeddings to predict the pathogenicity of missense variantsMartin Danner, Matthias Begemann, Miriam Elbracht, 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.
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