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Peter Krawitz

Showing results (31-40 of 101) with videos related to

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American Journal of Medical Genetics. Part A|October 22, 2014
First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literatureNadja Ehmke, Nima Parvaneh, Peter Krawitz, et al.
Orphanet Journal of Rare Diseases|February 6, 2020
Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genesLeigh C Carmody, Hannah Blau, Daniel Danis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Breast and prostate cancer risk: The interplay of polygenic risk, rare pathogenic germline variants, and family historyEmadeldin Hassanin, Patrick May, Rana Aldisi, et al.
Bioinformatics (Oxford, England)|February 1, 2011
Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disordersChristian Rödelsperger, Peter Krawitz, Sebastian Bauer, et al.
American Journal of Human Genetics|October 6, 2009
Clinical diagnostics in human genetics with semantic similarity searches in ontologiesSebastian Köhler, Marcel H Schulz, Peter Krawitz, et al.
Briefings in Bioinformatics|January 11, 2021
DeepCNV: a deep learning approach for authenticating copy number variationsJoseph T Glessner, Xiurui Hou, Cheng Zhong, et al.
Orphanet Journal of Rare Diseases|July 16, 2025
Artificial intelligence for diagnosing rare bone diseases: a global survey of healthcare professionalsBehnam Javanmardi, Rebekah L Waikel, Tinatin Tkemaladze, et al.
Computational and Structural Biotechnology Journal|May 16, 2022
Reconstruction of the origin of the first major SARS-CoV-2 outbreak in GermanyMarek Korencak, Sugirthan Sivalingam, Anshupa Sahu, et al.
Haematologica|January 27, 2022
Occurrence of a paroxysmal nocturnal hemoglobinuria clone in an essential thrombocythemia: a link between <i>PIGV</i> and <i>MPL</i>Alexej Knaus, François Vergez, Cédric Garcia, et al.
Frontiers in Genetics|December 11, 2023
Trans-ancestry polygenic models for the prediction of LDL blood levels: an analysis of the United Kingdom Biobank and Taiwan BiobankEmadeldin Hassanin, Ko-Han Lee, Tzung-Chien Hsieh, et al.
Pageof 11

Showing results (31-40 of 101) with videos related to

Sort By:
Pageof 11
American Journal of Medical Genetics. Part A|October 22, 2014
First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literatureNadja Ehmke, Nima Parvaneh, Peter Krawitz, et al.
Orphanet Journal of Rare Diseases|February 6, 2020
Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genesLeigh C Carmody, Hannah Blau, Daniel Danis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Breast and prostate cancer risk: The interplay of polygenic risk, rare pathogenic germline variants, and family historyEmadeldin Hassanin, Patrick May, Rana Aldisi, et al.
Bioinformatics (Oxford, England)|February 1, 2011
Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disordersChristian Rödelsperger, Peter Krawitz, Sebastian Bauer, et al.
American Journal of Human Genetics|October 6, 2009
Clinical diagnostics in human genetics with semantic similarity searches in ontologiesSebastian Köhler, Marcel H Schulz, Peter Krawitz, et al.
Briefings in Bioinformatics|January 11, 2021
DeepCNV: a deep learning approach for authenticating copy number variationsJoseph T Glessner, Xiurui Hou, Cheng Zhong, et al.
Orphanet Journal of Rare Diseases|July 16, 2025
Artificial intelligence for diagnosing rare bone diseases: a global survey of healthcare professionalsBehnam Javanmardi, Rebekah L Waikel, Tinatin Tkemaladze, et al.
Computational and Structural Biotechnology Journal|May 16, 2022
Reconstruction of the origin of the first major SARS-CoV-2 outbreak in GermanyMarek Korencak, Sugirthan Sivalingam, Anshupa Sahu, et al.
Haematologica|January 27, 2022
Occurrence of a paroxysmal nocturnal hemoglobinuria clone in an essential thrombocythemia: a link between <i>PIGV</i> and <i>MPL</i>Alexej Knaus, François Vergez, Cédric Garcia, et al.
Frontiers in Genetics|December 11, 2023
Trans-ancestry polygenic models for the prediction of LDL blood levels: an analysis of the United Kingdom Biobank and Taiwan BiobankEmadeldin Hassanin, Ko-Han Lee, Tzung-Chien Hsieh, et al.
Pageof 11