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Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
|
July 21, 2025
Editorial - Patient perspectives on new therapies for genetic diseases
Miriam Elbracht, Christiane Zweier, Ilona Krey-Grauert
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
|
July 21, 2025
Precision medicine
Christiane 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 syndrome
Robert 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 variations
Thomas 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 family
Thomas 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 phenotype
Ulrike 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 syndrome
Lea Neuheuser, Robert Meyer, Matthias Begemann, et al.
Expert Review of Molecular Diagnostics
|
June 19, 2012
Epigenetic and genetic diagnosis of Silver-Russell syndrome
Thomas 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 variants
Martin Danner, Matthias Begemann, Miriam Elbracht, et al.
European Journal of Medical Genetics
|
October 3, 2020
Molecular characterization of temple syndrome families with 14q32 epimutations
Johanna Brück, Matthias Begemann, Daniela Dey, et al.
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Search research articles
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Showing results (1-10 of 99) with videos related to
Sort By:
Page
of 10
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
|
July 21, 2025
Editorial - Patient perspectives on new therapies for genetic diseases
Miriam Elbracht, Christiane Zweier, Ilona Krey-Grauert
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
|
July 21, 2025
Precision medicine
Christiane 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 syndrome
Robert 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 variations
Thomas 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 family
Thomas 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 phenotype
Ulrike 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 syndrome
Lea Neuheuser, Robert Meyer, Matthias Begemann, et al.
Expert Review of Molecular Diagnostics
|
June 19, 2012
Epigenetic and genetic diagnosis of Silver-Russell syndrome
Thomas 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 variants
Martin Danner, Matthias Begemann, Miriam Elbracht, et al.
European Journal of Medical Genetics
|
October 3, 2020
Molecular characterization of temple syndrome families with 14q32 epimutations
Johanna Brück, Matthias Begemann, Daniela Dey, et al.
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of 10