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Peter Krawitz

Showing results (51-60 of 101) with videos related to

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European Journal of Human Genetics : EJHG|April 17, 2015
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndromeMateusz Kolanczyk, Peter Krawitz, Jochen Hecht, et al.
European Journal of Human Genetics : EJHG|June 12, 2014
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndromeMateusz Kolanczyk, Peter Krawitz, Jochen Hecht, et al.
Cell Cycle (Georgetown, Tex.)|August 23, 2011
Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephalyJuan Alberto Marchal, Mahdi Ghani, Detlev Schindler, et al.
Scientific Reports|September 23, 2025
Population-specific calibration and validation of an open-source bone age AISebastian Rassmann, Luka Abashishvili, Elene Melikidze, et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society|August 1, 2020
New technologies for intensive prevention programs after myocardial infarction: rationale and design of the NET-IPP trialHarm Wienbergen, Andreas Fach, Jeanette Erdmann, et al.
Bioinformatics (Oxford, England)|June 28, 2024
Approximating facial expression effects on diagnostic accuracy via generative AI in medical geneticsTanviben Patel, Amna A Othman, Ömer Sümer, et al.
European Journal of Human Genetics : EJHG|October 9, 2014
Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patientDenise Emmerich, Tomasz Zemojtel, Jochen Hecht, et al.
Molecular Genetics and Metabolism|August 12, 2015
Key features and clinical variability of COG6-CDGDaisy Rymen, Julia Winter, Peter M Van Hasselt, et al.
BMC Medical Genomics|March 5, 2023
Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidenceEmadeldin Hassanin, Isabel Spier, Dheeraj R Bobbili, et al.
Human Molecular Genetics|February 26, 2015
Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus modelThorsten Pfirrmann, Denise Emmerich, Peter Ruokonen, et al.
Pageof 11

Showing results (51-60 of 101) with videos related to

Sort By:
Pageof 11
European Journal of Human Genetics : EJHG|April 17, 2015
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndromeMateusz Kolanczyk, Peter Krawitz, Jochen Hecht, et al.
European Journal of Human Genetics : EJHG|June 12, 2014
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndromeMateusz Kolanczyk, Peter Krawitz, Jochen Hecht, et al.
Cell Cycle (Georgetown, Tex.)|August 23, 2011
Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephalyJuan Alberto Marchal, Mahdi Ghani, Detlev Schindler, et al.
Scientific Reports|September 23, 2025
Population-specific calibration and validation of an open-source bone age AISebastian Rassmann, Luka Abashishvili, Elene Melikidze, et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society|August 1, 2020
New technologies for intensive prevention programs after myocardial infarction: rationale and design of the NET-IPP trialHarm Wienbergen, Andreas Fach, Jeanette Erdmann, et al.
Bioinformatics (Oxford, England)|June 28, 2024
Approximating facial expression effects on diagnostic accuracy via generative AI in medical geneticsTanviben Patel, Amna A Othman, Ömer Sümer, et al.
European Journal of Human Genetics : EJHG|October 9, 2014
Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patientDenise Emmerich, Tomasz Zemojtel, Jochen Hecht, et al.
Molecular Genetics and Metabolism|August 12, 2015
Key features and clinical variability of COG6-CDGDaisy Rymen, Julia Winter, Peter M Van Hasselt, et al.
BMC Medical Genomics|March 5, 2023
Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidenceEmadeldin Hassanin, Isabel Spier, Dheeraj R Bobbili, et al.
Human Molecular Genetics|February 26, 2015
Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus modelThorsten Pfirrmann, Denise Emmerich, Peter Ruokonen, et al.
Pageof 11