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Plos Computational Biology
|
February 8, 2020
SmartPhase: Accurate and fast phasing of heterozygous variant pairs for genetic diagnosis of rare diseases
Paul Hager, Hans-Werner Mewes, Meino Rohlfs, et al.
Bioinformatics (Oxford, England)
|
June 23, 2019
DEUS: an R package for accurate small RNA profiling based on differential expression of unique sequences
Tim Jeske, Peter Huypens, Laura Stirm, et al.
Bioinformatics (Oxford, England)
|
January 11, 2017
KNIME4NGS: a comprehensive toolbox for next generation sequencing analysis
Maximilian Hastreiter, Tim Jeske, Jonathan Hoser, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
|
March 8, 2021
New Findings of Immunodysregulation, Polyendocrinopathy, and Enteropathy X-linked Syndrome (IPEX); Granulomas in Lung and Duodenum
Demet Teker Duztas, Lina Al-Shadfan, Hakan Ozturk, et al.
Cells
|
December 24, 2021
TGF-β Induction of miR-143/145 Is Associated to Exercise Response by Influencing Differentiation and Insulin Signaling Molecules in Human Skeletal Muscle
Simon I Dreher, Selina Höckele, Peter Huypens, et al.
Journal of Clinical Immunology
|
July 26, 2020
An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency
Alma Ziv, Lael Werner, Liza Konnikova, et al.
Immunological Investigations
|
July 8, 2020
Clinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (IPIDR)
Farzaneh Rahmani, Elham Rayzan, Mohammad Reza Rahmani, et al.
Clinical Genetics
|
February 18, 2021
FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes: Look beyond the lungs!
Luise A Schuch, Maria Forstner, Christina K Rapp, et al.
Inflammatory Bowel Diseases
|
May 23, 2019
CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease
Thomas Magg, Anna Shcherbina, Duran Arslan, et al.
Blood
|
October 12, 2022
Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes
Monika I Linder, Yoko Mizoguchi, Sebastian Hesse, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 11) with videos related to
Sort By:
Page
of 2
Plos Computational Biology
|
February 8, 2020
SmartPhase: Accurate and fast phasing of heterozygous variant pairs for genetic diagnosis of rare diseases
Paul Hager, Hans-Werner Mewes, Meino Rohlfs, et al.
Bioinformatics (Oxford, England)
|
June 23, 2019
DEUS: an R package for accurate small RNA profiling based on differential expression of unique sequences
Tim Jeske, Peter Huypens, Laura Stirm, et al.
Bioinformatics (Oxford, England)
|
January 11, 2017
KNIME4NGS: a comprehensive toolbox for next generation sequencing analysis
Maximilian Hastreiter, Tim Jeske, Jonathan Hoser, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
|
March 8, 2021
New Findings of Immunodysregulation, Polyendocrinopathy, and Enteropathy X-linked Syndrome (IPEX); Granulomas in Lung and Duodenum
Demet Teker Duztas, Lina Al-Shadfan, Hakan Ozturk, et al.
Cells
|
December 24, 2021
TGF-β Induction of miR-143/145 Is Associated to Exercise Response by Influencing Differentiation and Insulin Signaling Molecules in Human Skeletal Muscle
Simon I Dreher, Selina Höckele, Peter Huypens, et al.
Journal of Clinical Immunology
|
July 26, 2020
An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency
Alma Ziv, Lael Werner, Liza Konnikova, et al.
Immunological Investigations
|
July 8, 2020
Clinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (IPIDR)
Farzaneh Rahmani, Elham Rayzan, Mohammad Reza Rahmani, et al.
Clinical Genetics
|
February 18, 2021
FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes: Look beyond the lungs!
Luise A Schuch, Maria Forstner, Christina K Rapp, et al.
Inflammatory Bowel Diseases
|
May 23, 2019
CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease
Thomas Magg, Anna Shcherbina, Duran Arslan, et al.
Blood
|
October 12, 2022
Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes
Monika I Linder, Yoko Mizoguchi, Sebastian Hesse, et al.
Page
of 2