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Genome Medicine|March 15, 2023
Combinatorial batching of DNA for ultralow-cost detection of pathogenic variantsUlrik Kristoffer Stoltze, Christian Munch Hagen, Thomas van Overeem Hansen, et al.
European Journal of Human Genetics : EJHG|March 2, 2026
Challenges in identifying paediatric cancer predisposition syndromes: international SCOPE survey and SIOPE expert consensus recommendationsJakica Ćavar Pavić, Noelle Cullinan, Marjolijn Jongmans, et al.
Familial Cancer|August 8, 2015
POLE mutations in families predisposed to cutaneous melanomaLauren G Aoude, Ellen Heitzer, Peter Johansson, et al.
Cold Spring Harbor Molecular Case Studies|April 15, 2022
9p21.3 Microdeletion involving CDKN2A/2B in a young patient with multiple primary cancers and review of the literatureMarlene Richter Jensen, Ulrik Stoltze, Thomas Van Overeem Hansen, et al.
Frontiers in Genetics|November 16, 2020
New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer PatientsMalene Djursby, Majbritt B Madsen, Jane H Frederiksen, et al.
Molecular Genetics & Genomic Medicine|November 15, 2024
Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional DataJane Hübertz Frederiksen, Ulf Birkedal, Sarah Bachmann, et al.
Neuro-Oncology|July 28, 2022
Genetic predisposition and evolutionary traces of pediatric cancer risk: a prospective 5-year population-based genome sequencing study of children with CNS tumorsUlrik Kristoffer Stoltze, Jon Foss-Skiftesvik, Thomas van Overeem Hansen, et al.
Leukemia|March 25, 2025
Overt and covert genetic causes of pediatric acute lymphoblastic leukemiaUlrik Stoltze, Stefanie V Junk, Anna Byrjalsen, et al.
Acta Neuropathologica Communications|August 25, 2022
Redefining germline predisposition in children with molecularly characterized ependymoma: a population-based 20-year cohortJon Foss-Skiftesvik, Ulrik Kristoffer Stoltze, Thomas van Overeem Hansen, et al.
Oncotarget|December 20, 2015
Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4Peter Johansson, Lauren G Aoude, Karin Wadt, et al.
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