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Clinical Epigenetics
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April 30, 2025
Maternal uniparental disomy of chromosome 7: how chromosome 7-encoded imprinted genes contribute to the Silver-Russell phenotype
Matthias Begemann, Anna Lengyel, Eva Pinti, et al.
Molecular Genetics & Genomic Medicine
|
November 6, 2018
Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures
Miriam Elbracht, Florian Kraft, Matthias Begemann, et al.
Journal of Medical Genetics
|
June 14, 2024
Complex structural variation and nonsense variant <i>in trans</i> cause <i>VPS50</i>-related disorder
Laura Hecher, Esther Gorski-Alberts, Matthias Begemann, et al.
The New England Journal of Medicine
|
July 9, 2015
Paternally Inherited IGF2 Mutation and Growth Restriction
Matthias Begemann, Birgit Zirn, Gijs Santen, et al.
Prenatal Diagnosis
|
June 25, 2026
Prenatal Genetic Testing for Beckwith-Wiedemann Syndrome: Considerations, Challenges and Observations (A Real-World Study)
Melissa Connolly, Louise McClelland, Pierpaola Tannorella, et al.
Clinical Genetics
|
July 29, 2020
Inherited cases of CNOT3-associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies
Robert Meyer, Matthias Begemann, Stephanie Demuth, et al.
Genetics Research
|
December 24, 2025
Comprehensive Genetic Testing for Clinical Decision-Making in a Patient With Congenital Hyperinsulinism
Matthias Begemann, Johannes Alexander Tobias Boy, Florian Kraft, et al.
European Journal of Human Genetics : EJHG
|
May 8, 2014
Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32
Jasmin Beygo, Miriam Elbracht, Karel de Groot, et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
|
June 6, 2024
Quality assurance within the context of genome diagnostics (a german perspective)
Kraft Florian, Anna Benet-Pagès, Daniel Berner, et al.
Clinical Epigenetics
|
May 7, 2016
Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulation
Florian Bohne, David Langer, Ursula Martiné, et al.
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Search research articles
Search
Showing results (51-60 of 97) with videos related to
Sort By:
Page
of 10
Clinical Epigenetics
|
April 30, 2025
Maternal uniparental disomy of chromosome 7: how chromosome 7-encoded imprinted genes contribute to the Silver-Russell phenotype
Matthias Begemann, Anna Lengyel, Eva Pinti, et al.
Molecular Genetics & Genomic Medicine
|
November 6, 2018
Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures
Miriam Elbracht, Florian Kraft, Matthias Begemann, et al.
Journal of Medical Genetics
|
June 14, 2024
Complex structural variation and nonsense variant <i>in trans</i> cause <i>VPS50</i>-related disorder
Laura Hecher, Esther Gorski-Alberts, Matthias Begemann, et al.
The New England Journal of Medicine
|
July 9, 2015
Paternally Inherited IGF2 Mutation and Growth Restriction
Matthias Begemann, Birgit Zirn, Gijs Santen, et al.
Prenatal Diagnosis
|
June 25, 2026
Prenatal Genetic Testing for Beckwith-Wiedemann Syndrome: Considerations, Challenges and Observations (A Real-World Study)
Melissa Connolly, Louise McClelland, Pierpaola Tannorella, et al.
Clinical Genetics
|
July 29, 2020
Inherited cases of CNOT3-associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies
Robert Meyer, Matthias Begemann, Stephanie Demuth, et al.
Genetics Research
|
December 24, 2025
Comprehensive Genetic Testing for Clinical Decision-Making in a Patient With Congenital Hyperinsulinism
Matthias Begemann, Johannes Alexander Tobias Boy, Florian Kraft, et al.
European Journal of Human Genetics : EJHG
|
May 8, 2014
Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32
Jasmin Beygo, Miriam Elbracht, Karel de Groot, et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V
|
June 6, 2024
Quality assurance within the context of genome diagnostics (a german perspective)
Kraft Florian, Anna Benet-Pagès, Daniel Berner, et al.
Clinical Epigenetics
|
May 7, 2016
Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulation
Florian Bohne, David Langer, Ursula Martiné, et al.
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of 10