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M Krawitz

Showing results (11-20 of 70) with videos related to

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American Journal of Medical Genetics. Part A|September 17, 2024
Seven Novel Variants of Weiss-Kruszka Syndrome and Phenotype ExpansionAnna Hau, Anne Baxter, Kate Chandler, et al.
Plos One|August 14, 2013
Filtering for compound heterozygous sequence variants in non-consanguineous pedigreesTom Kamphans, Peggy Sabri, Na Zhu, et al.
Bioinformatics (Oxford, England)|August 8, 2015
Strategies to improve the performance of rare variant association studies by optimizing the selection of controlsNa Zhu, Verena Heinrich, Thorsten Dickhaus, et al.
American Journal of Medical Genetics. Part A|November 3, 2023
Understanding recessive disease risk in multi-ethnic populations with different degrees of consanguinityLuis A La Rocca, Julia Frank, Heidi Beate Bentzen, et al.
Genes|March 28, 2024
Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial AnalysisMeghna Ahuja Bhasin, Alexej Knaus, Pietro Incardona, et al.
Frontiers in Genetics|July 13, 2023
AI-based multi-PRS models outperform classical single-PRS modelsJan Henric Klau, Carlo Maj, Hannah Klinkhammer, et al.
The Journal of Biological Chemistry|January 10, 2012
Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndromeYoshiko Murakami, Noriyuki Kanzawa, Kazunobu Saito, et al.
Human Mutation|June 6, 2017
Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of functionJin James Zhao, Jonatan Halvardson, Alexej Knaus, et al.
Nucleic Acids Research|December 1, 2011
The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching processVerena Heinrich, Jens Stange, Thorsten Dickhaus, et al.
American Journal of Human Genetics|April 9, 2013
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndromePeter M Krawitz, Yoshiko Murakami, Angelika Rieß, et al.
Pageof 7

Showing results (11-20 of 70) with videos related to

Sort By:
Pageof 7
American Journal of Medical Genetics. Part A|September 17, 2024
Seven Novel Variants of Weiss-Kruszka Syndrome and Phenotype ExpansionAnna Hau, Anne Baxter, Kate Chandler, et al.
Plos One|August 14, 2013
Filtering for compound heterozygous sequence variants in non-consanguineous pedigreesTom Kamphans, Peggy Sabri, Na Zhu, et al.
Bioinformatics (Oxford, England)|August 8, 2015
Strategies to improve the performance of rare variant association studies by optimizing the selection of controlsNa Zhu, Verena Heinrich, Thorsten Dickhaus, et al.
American Journal of Medical Genetics. Part A|November 3, 2023
Understanding recessive disease risk in multi-ethnic populations with different degrees of consanguinityLuis A La Rocca, Julia Frank, Heidi Beate Bentzen, et al.
Genes|March 28, 2024
Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial AnalysisMeghna Ahuja Bhasin, Alexej Knaus, Pietro Incardona, et al.
Frontiers in Genetics|July 13, 2023
AI-based multi-PRS models outperform classical single-PRS modelsJan Henric Klau, Carlo Maj, Hannah Klinkhammer, et al.
The Journal of Biological Chemistry|January 10, 2012
Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndromeYoshiko Murakami, Noriyuki Kanzawa, Kazunobu Saito, et al.
Human Mutation|June 6, 2017
Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of functionJin James Zhao, Jonatan Halvardson, Alexej Knaus, et al.
Nucleic Acids Research|December 1, 2011
The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching processVerena Heinrich, Jens Stange, Thorsten Dickhaus, et al.
American Journal of Human Genetics|April 9, 2013
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndromePeter M Krawitz, Yoshiko Murakami, Angelika Rieß, et al.
Pageof 7