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Peter Krawitz

Showing results (61-70 of 101) with videos related to

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American Journal of Medical Genetics. Part A|February 9, 2012
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)Miles D Thompson, Tony Roscioli, Carlo Marcelis, et al.
NAR Genomics and Bioinformatics|September 13, 2021
CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graphChengyao Peng, Simon Dieck, Alexander Schmid, et al.
Medrxiv : the Preprint Server for Health Sciences|August 14, 2023
Human and computer attention in assessing genetic conditionsDat Duong, Anna Rose Johny, Suzanna Ledgister Hanchard, et al.
Genome Research|September 3, 2013
Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutationsDaniel M Ibrahim, Peter Hansen, Christian Rödelsperger, et al.
BMC Genomics|November 9, 2015
Crowdsourced direct-to-consumer genomic analysis of a family quartetManuel Corpas, Willy Valdivia-Granda, Nazareth Torres, et al.
Plos Genetics|February 27, 2024
Comparison of clinical geneticist and computer visual attention in assessing genetic conditionsDat Duong, Anna Rose Johny, Suzanna Ledgister Hanchard, et al.
Communications Biology|January 21, 2022
Cross-tissue transcriptome-wide association studies identify susceptibility genes shared between schizophrenia and inflammatory bowel diseaseFlorian Uellendahl-Werth, Carlo Maj, Oleg Borisov, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 1, 2023
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variantCaitlin Forwood, Katie Ashton, Ying Zhu, et al.
Cell|May 12, 2015
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactionsDarío G Lupiáñez, Katerina Kraft, Verena Heinrich, et al.
Brain : a Journal of Neurology|January 25, 2014
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3Uwe Kornak, Inès Mademan, Marte Schinke, et al.
Pageof 11

Showing results (61-70 of 101) with videos related to

Sort By:
Pageof 11
American Journal of Medical Genetics. Part A|February 9, 2012
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)Miles D Thompson, Tony Roscioli, Carlo Marcelis, et al.
NAR Genomics and Bioinformatics|September 13, 2021
CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graphChengyao Peng, Simon Dieck, Alexander Schmid, et al.
Medrxiv : the Preprint Server for Health Sciences|August 14, 2023
Human and computer attention in assessing genetic conditionsDat Duong, Anna Rose Johny, Suzanna Ledgister Hanchard, et al.
Genome Research|September 3, 2013
Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutationsDaniel M Ibrahim, Peter Hansen, Christian Rödelsperger, et al.
BMC Genomics|November 9, 2015
Crowdsourced direct-to-consumer genomic analysis of a family quartetManuel Corpas, Willy Valdivia-Granda, Nazareth Torres, et al.
Plos Genetics|February 27, 2024
Comparison of clinical geneticist and computer visual attention in assessing genetic conditionsDat Duong, Anna Rose Johny, Suzanna Ledgister Hanchard, et al.
Communications Biology|January 21, 2022
Cross-tissue transcriptome-wide association studies identify susceptibility genes shared between schizophrenia and inflammatory bowel diseaseFlorian Uellendahl-Werth, Carlo Maj, Oleg Borisov, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 1, 2023
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variantCaitlin Forwood, Katie Ashton, Ying Zhu, et al.
Cell|May 12, 2015
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactionsDarío G Lupiáñez, Katerina Kraft, Verena Heinrich, et al.
Brain : a Journal of Neurology|January 25, 2014
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3Uwe Kornak, Inès Mademan, Marte Schinke, et al.
Pageof 11