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European Journal of Human Genetics : EJHG
|
December 5, 2013
Further delineation of the SATB2 phenotype
Dennis Döcker, Max Schubach, Moritz Menzel, et al.
European Journal of Human Genetics : EJHG
|
June 19, 2014
Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?
Dennis Döcker, Max Schubach, Moritz Menzel, et al.
Mitochondrion
|
January 14, 2015
From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1
Matthias Kettwig, Max Schubach, Franz A Zimmermann, et al.
Nature Communications
|
August 10, 2019
Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution
Martin Kircher, Chenling Xiong, Beth Martin, et al.
Gigascience
|
May 24, 2020
parSMURF, a high-performance computing tool for the genome-wide detection of pathogenic variants
Alessandro Petrini, Marco Mesiti, Max Schubach, et al.
Journal of Translational Medicine
|
February 8, 2018
Immune monitoring and TCR sequencing of CD4 T cells in a long term responsive patient with metastasized pancreatic ductal carcinoma treated with individualized, neoepitope-derived multipeptide vaccines: a case report
Katja Sonntag, Hisayoshi Hashimoto, Matthias Eyrich, et al.
Biorxiv : the Preprint Server for Biology
|
November 19, 2025
Uniform processing and analysis of IGVF massively parallel reporter assay data with MPRAsnakeflow
Jonathan D Rosen, Arjun Devadas Vasanthakumari, Kilian Salomon, et al.
BMC Cancer
|
October 27, 2015
Whole exome sequencing of microdissected splenic marginal zone lymphoma: a study to discover novel tumor-specific mutations
Jan Peveling-Oberhag, Franziska Wolters, Claudia Döring, et al.
Biorxiv : the Preprint Server for Biology
|
March 22, 2023
Massively parallel characterization of transcriptional regulatory elements in three diverse human cell types
Vikram Agarwal, Fumitaka Inoue, Max Schubach, et al.
European Journal of Human Genetics : EJHG
|
April 18, 2013
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies
Nicola Glöckle, Susanne Kohl, Julia Mohr, et al.
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Search research articles
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Showing results (11-20 of 35) with videos related to
Sort By:
Page
of 4
European Journal of Human Genetics : EJHG
|
December 5, 2013
Further delineation of the SATB2 phenotype
Dennis Döcker, Max Schubach, Moritz Menzel, et al.
European Journal of Human Genetics : EJHG
|
June 19, 2014
Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?
Dennis Döcker, Max Schubach, Moritz Menzel, et al.
Mitochondrion
|
January 14, 2015
From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1
Matthias Kettwig, Max Schubach, Franz A Zimmermann, et al.
Nature Communications
|
August 10, 2019
Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution
Martin Kircher, Chenling Xiong, Beth Martin, et al.
Gigascience
|
May 24, 2020
parSMURF, a high-performance computing tool for the genome-wide detection of pathogenic variants
Alessandro Petrini, Marco Mesiti, Max Schubach, et al.
Journal of Translational Medicine
|
February 8, 2018
Immune monitoring and TCR sequencing of CD4 T cells in a long term responsive patient with metastasized pancreatic ductal carcinoma treated with individualized, neoepitope-derived multipeptide vaccines: a case report
Katja Sonntag, Hisayoshi Hashimoto, Matthias Eyrich, et al.
Biorxiv : the Preprint Server for Biology
|
November 19, 2025
Uniform processing and analysis of IGVF massively parallel reporter assay data with MPRAsnakeflow
Jonathan D Rosen, Arjun Devadas Vasanthakumari, Kilian Salomon, et al.
BMC Cancer
|
October 27, 2015
Whole exome sequencing of microdissected splenic marginal zone lymphoma: a study to discover novel tumor-specific mutations
Jan Peveling-Oberhag, Franziska Wolters, Claudia Döring, et al.
Biorxiv : the Preprint Server for Biology
|
March 22, 2023
Massively parallel characterization of transcriptional regulatory elements in three diverse human cell types
Vikram Agarwal, Fumitaka Inoue, Max Schubach, et al.
European Journal of Human Genetics : EJHG
|
April 18, 2013
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies
Nicola Glöckle, Susanne Kohl, Julia Mohr, et al.
Page
of 4