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Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz|October 24, 2022
[Artificial intelligence in the diagnosis of rare disorders: the development of phenotype analysis]Peter M KrawitzBioinformatics (Oxford, England)|July 25, 2012
GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomesTom Kamphans, Peter M KrawitzAmerican Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 16, 2023
Computational facial analysis for rare Mendelian disordersTzung-Chien Hsieh, Peter M KrawitzCurrent Protocols|October 9, 2023
Facilitating the Molecular Diagnosis of Rare Genetic Disorders Through Facial Phenotypic ScoresTzung-Chien Hsieh, Hellen Lesmann, Peter M KrawitzStatistics in Medicine|October 23, 2024
Genetic Prediction Modeling in Large Cohort Studies via Boosting Targeted Loss FunctionsHannah Klinkhammer, Christian Staerk, Carlo Maj, et al.Bioinformatics (Oxford, England)|August 28, 2016
A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing dataVerena Heinrich, Tom Kamphans, Stefan Mundlos, et al.Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.V|June 6, 2024
The future role of facial image analysis in ACMG classification guidelinesHellen Lesmann, Hannah Klinkhammer, Prof Dr Med Dipl Phys Peter M KrawitzHGG Advances|March 28, 2026
Investigations on transferability of polygenic risk scores depending on demography and dominance coefficientsLeonie Fohler, Edita Latifi, Andreas Mayr, et al.Molecular Genetics & Genomic Medicine|October 23, 2024
Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical FindingIbrahim M Abdelrazek, Alexej Knaus, Behnam Javanmardi, et al.Genome Medicine|August 2, 2013
Estimating exome genotyping accuracy by comparing to data from large scale sequencing projectsVerena Heinrich, Tom Kamphans, Jens Stange, et al.Pageof 7