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European Journal of Human Genetics : EJHG
|
November 29, 2012
Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour
Magdalena Gogiel, Matthias Begemann, Sabrina Spengler, et al.
Clinical Epigenetics
|
May 13, 2020
Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome
Carla Eßinger, Stephanie Karch, Ute Moog, et al.
Journal of Molecular Medicine (Berlin, Germany)
|
March 25, 2014
Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing
Thomas Eggermann, Ann-Kathrin Heilsberg, Susanne Bens, et al.
Bone Reports
|
May 22, 2023
Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco
Larissa Mattern, Matthias Begemann, Heide Delbrück, et al.
BMC Medical Genetics
|
March 13, 2016
Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes
Jana Sachwitz, Getrud Strobl-Wildemann, György Fekete, et al.
European Journal of Human Genetics : EJHG
|
February 4, 2026
The potential of whole genome sequencing in pharmacogenetics: a retrospective health record study in rare disease patients
Madeline Gorny, Katja S Just, Tim Krüger, et al.
Neurogenetics
|
August 28, 2025
Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 gene
Robin A Pilz, Matthias Begemann, Surema Pfister, et al.
BMC Bioinformatics
|
December 17, 2024
CNVizard-a lightweight streamlit application for an interactive analysis of copy number variants
Jeremias Krause, Carlos Classen, Daniela Dey, et al.
The Journal of Pediatrics
|
May 23, 2017
Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management
Robert Meyer, Lukas Soellner, Matthias Begemann, et al.
Blood Cancer Journal
|
May 10, 2023
DDX41 germline variants causing donor cell leukemia indicate a need for further genetic workup in the context of hematopoietic stem cell transplantation
Benjamin Rolles, Robert Meyer, Matthias Begemann, et al.
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Search research articles
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Showing results (31-40 of 97) with videos related to
Sort By:
Page
of 10
European Journal of Human Genetics : EJHG
|
November 29, 2012
Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour
Magdalena Gogiel, Matthias Begemann, Sabrina Spengler, et al.
Clinical Epigenetics
|
May 13, 2020
Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome
Carla Eßinger, Stephanie Karch, Ute Moog, et al.
Journal of Molecular Medicine (Berlin, Germany)
|
March 25, 2014
Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing
Thomas Eggermann, Ann-Kathrin Heilsberg, Susanne Bens, et al.
Bone Reports
|
May 22, 2023
Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco
Larissa Mattern, Matthias Begemann, Heide Delbrück, et al.
BMC Medical Genetics
|
March 13, 2016
Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes
Jana Sachwitz, Getrud Strobl-Wildemann, György Fekete, et al.
European Journal of Human Genetics : EJHG
|
February 4, 2026
The potential of whole genome sequencing in pharmacogenetics: a retrospective health record study in rare disease patients
Madeline Gorny, Katja S Just, Tim Krüger, et al.
Neurogenetics
|
August 28, 2025
Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 gene
Robin A Pilz, Matthias Begemann, Surema Pfister, et al.
BMC Bioinformatics
|
December 17, 2024
CNVizard-a lightweight streamlit application for an interactive analysis of copy number variants
Jeremias Krause, Carlos Classen, Daniela Dey, et al.
The Journal of Pediatrics
|
May 23, 2017
Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management
Robert Meyer, Lukas Soellner, Matthias Begemann, et al.
Blood Cancer Journal
|
May 10, 2023
DDX41 germline variants causing donor cell leukemia indicate a need for further genetic workup in the context of hematopoietic stem cell transplantation
Benjamin Rolles, Robert Meyer, Matthias Begemann, et al.
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of 10