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Peter Krawitz

Showing results (41-50 of 101) with videos related to

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Journal of Medical Genetics|August 6, 2017
Mutations in <i>MYO1H</i> cause a recessive form of central hypoventilation with autonomic dysfunctionMalte Spielmann, Luis R Hernandez-Miranda, Isabella Ceccherini, et al.
European Journal of Human Genetics : EJHG|January 15, 2025
GestaltGAN: synthetic photorealistic portraits of individuals with rare genetic disordersAron Kirchhoff, Alexander Hustinx, Behnam Javanmardi, et al.
Scientific Reports|June 23, 2025
Evidence for a transgenerational mutational signature from ionizing radiation exposure in humansFabian Brand, Hannah Klinkhammer, Alexej Knaus, et al.
Journal for Immunotherapy of Cancer|July 17, 2021
Tumor rejection in <i>Cblb</i><sup>-/-</sup> mice depends on IL-9 and Th9 cellsOliver Schanz, Isabelle Cornez, Sowmya Parampalli Yajnanarayana, et al.
Clinical Genetics|July 30, 2020
Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patientsAleksandra Jezela-Stanek, Elżbieta Szczepanik, Hanna Mierzewska, et al.
Nutrients|May 11, 2024
Impact of Synbiotic Intake on Liver Metabolism in Metabolically Healthy Participants and Its Potential Preventive Effect on Metabolic-Dysfunction-Associated Fatty Liver Disease (MAFLD): A Randomized, Placebo-Controlled, Double-Blinded Clinical TrialAakash Mantri, Anika Köhlmoos, Daniela Stephanie Schelski, et al.
Genome Research|October 29, 2013
Improved exome prioritization of disease genes through cross-species phenotype comparisonPeter N Robinson, Sebastian Köhler, Anika Oellrich, et al.
European Journal of Human Genetics : EJHG|October 17, 2013
Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndromeDenise Horn, Dagmar Wieczorek, Kay Metcalfe, et al.
Arxiv|May 7, 2024
GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical TextsDa Wu, Jingye Yang, Cong Liu, et al.
European Journal of Human Genetics : EJHG|March 7, 2013
Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathyRoberta Roncarati, Chiara Viviani Anselmi, Peter Krawitz, et al.
Pageof 11

Showing results (41-50 of 101) with videos related to

Sort By:
Pageof 11
Journal of Medical Genetics|August 6, 2017
Mutations in <i>MYO1H</i> cause a recessive form of central hypoventilation with autonomic dysfunctionMalte Spielmann, Luis R Hernandez-Miranda, Isabella Ceccherini, et al.
European Journal of Human Genetics : EJHG|January 15, 2025
GestaltGAN: synthetic photorealistic portraits of individuals with rare genetic disordersAron Kirchhoff, Alexander Hustinx, Behnam Javanmardi, et al.
Scientific Reports|June 23, 2025
Evidence for a transgenerational mutational signature from ionizing radiation exposure in humansFabian Brand, Hannah Klinkhammer, Alexej Knaus, et al.
Journal for Immunotherapy of Cancer|July 17, 2021
Tumor rejection in <i>Cblb</i><sup>-/-</sup> mice depends on IL-9 and Th9 cellsOliver Schanz, Isabelle Cornez, Sowmya Parampalli Yajnanarayana, et al.
Clinical Genetics|July 30, 2020
Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patientsAleksandra Jezela-Stanek, Elżbieta Szczepanik, Hanna Mierzewska, et al.
Nutrients|May 11, 2024
Impact of Synbiotic Intake on Liver Metabolism in Metabolically Healthy Participants and Its Potential Preventive Effect on Metabolic-Dysfunction-Associated Fatty Liver Disease (MAFLD): A Randomized, Placebo-Controlled, Double-Blinded Clinical TrialAakash Mantri, Anika Köhlmoos, Daniela Stephanie Schelski, et al.
Genome Research|October 29, 2013
Improved exome prioritization of disease genes through cross-species phenotype comparisonPeter N Robinson, Sebastian Köhler, Anika Oellrich, et al.
European Journal of Human Genetics : EJHG|October 17, 2013
Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndromeDenise Horn, Dagmar Wieczorek, Kay Metcalfe, et al.
Arxiv|May 7, 2024
GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical TextsDa Wu, Jingye Yang, Cong Liu, et al.
European Journal of Human Genetics : EJHG|March 7, 2013
Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathyRoberta Roncarati, Chiara Viviani Anselmi, Peter Krawitz, et al.
Pageof 11