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Human Mutation
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September 15, 2022
Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndrome
Fabian Brand, Aswinkumar Vijayananth, Tzung-Chien Hsieh, et al.
NPJ Genomic Medicine
|
July 2, 2021
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19
Axel Schmidt, Sophia Peters, Alexej Knaus, et al.
Science Translational Medicine
|
March 28, 2020
A high-salt diet compromises antibacterial neutrophil responses through hormonal perturbation
Katarzyna Jobin, Natascha E Stumpf, Sebastian Schwab, et al.
Plos One
|
November 29, 2021
Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis
Claudia Perne, Sophia Peters, Maria Cartolano, et al.
Genes
|
September 28, 2021
Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO)
Luca M Schierbaum, Sophia Schneider, Stefan Herms, et al.
Nature Communications
|
November 17, 2017
Genome-wide mapping of genetic determinants influencing DNA methylation and gene expression in human hippocampus
Herbert Schulz, Ann-Kathrin Ruppert, Stefan Herms, et al.
BMC Genomics
|
April 27, 2018
Impact on birth weight of maternal smoking throughout pregnancy mediated by DNA methylation
Stephanie H Witt, Josef Frank, Maria Gilles, et al.
American Journal of Human Genetics
|
November 8, 2018
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Maria-Teresa Romano, Aylar Tafazzoli, Maximilian Mattern, et al.
F1000Research
|
September 30, 2024
NCBench: providing an open, reproducible, transparent, adaptable, and continuous benchmark approach for DNA-sequencing-based variant calling
Friederike Hanssen, Gisela Gabernet, Famke Bäuerle, et al.
Comprehensive Psychiatry
|
August 26, 2025
Blood-based DNA methylation profiles in major depressive disorder, bipolar disorder, and schizophrenia spectrum disorders
Friederike S David, Josef Frank, Frederike Stein, et al.
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of 4
Search research articles
Search
Showing results (11-20 of 32) with videos related to
Sort By:
Page
of 4
Human Mutation
|
September 15, 2022
Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndrome
Fabian Brand, Aswinkumar Vijayananth, Tzung-Chien Hsieh, et al.
NPJ Genomic Medicine
|
July 2, 2021
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19
Axel Schmidt, Sophia Peters, Alexej Knaus, et al.
Science Translational Medicine
|
March 28, 2020
A high-salt diet compromises antibacterial neutrophil responses through hormonal perturbation
Katarzyna Jobin, Natascha E Stumpf, Sebastian Schwab, et al.
Plos One
|
November 29, 2021
Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis
Claudia Perne, Sophia Peters, Maria Cartolano, et al.
Genes
|
September 28, 2021
Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO)
Luca M Schierbaum, Sophia Schneider, Stefan Herms, et al.
Nature Communications
|
November 17, 2017
Genome-wide mapping of genetic determinants influencing DNA methylation and gene expression in human hippocampus
Herbert Schulz, Ann-Kathrin Ruppert, Stefan Herms, et al.
BMC Genomics
|
April 27, 2018
Impact on birth weight of maternal smoking throughout pregnancy mediated by DNA methylation
Stephanie H Witt, Josef Frank, Maria Gilles, et al.
American Journal of Human Genetics
|
November 8, 2018
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Maria-Teresa Romano, Aylar Tafazzoli, Maximilian Mattern, et al.
F1000Research
|
September 30, 2024
NCBench: providing an open, reproducible, transparent, adaptable, and continuous benchmark approach for DNA-sequencing-based variant calling
Friederike Hanssen, Gisela Gabernet, Famke Bäuerle, et al.
Comprehensive Psychiatry
|
August 26, 2025
Blood-based DNA methylation profiles in major depressive disorder, bipolar disorder, and schizophrenia spectrum disorders
Friederike S David, Josef Frank, Frederike Stein, et al.
Page
of 4