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Human Mutation|April 22, 2022
The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defectsLaura Mary, Delphine Leclerc, David Gilot, et al.Human Mutation|April 22, 2022
Predictive functional assay-based classification of PMS2 variants in Lynch syndromeEmily Rayner, Yvonne Tiersma, Cristina Fortuno, et al.Human Mutation|October 18, 2012
FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database updateKristiana Gordon, Sarah L Spiden, Fiona C Connell, et al.Human Mutation|October 19, 2012
Unilateral cryptorchidism in mice mutant for PtgdsPascal Philibert, Brigitte Boizet-Bonhoure, Anu Bashamboo, et al.Human Mutation|July 21, 2025
Bayesian Optimization-Enhanced Machine Learning for Osteosarcoma Risk Stratification Based on Sphingolipid MetabolismYujian Zhong, Ruyuan He, Zewen Jiang, et al.Human Mutation|July 18, 2025
Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange SyndromeMorad Ansari, Mihail Halachev, David Parry, et al.Human Mutation|July 18, 2025
Incorporating Nanopore Sequencing Into a Diverse Diagnostic Toolkit for Incontinentia PigmentiSimone Ahting, Denny Popp, Henry Oppermann, et al.Human Mutation|July 15, 2025
Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVarChristina A Eichstaedt, Gabriel Maldonado-Velez, Rajiv D Machado, et al.Human Mutation|June 24, 2025
Phenotypic Characterization of ALS-Causing SOD1 Mutations Affecting Polypeptide LengthMariusz Berdyński, Krzysztof Safranow, Peter M Andersen, et al.Human Mutation|September 15, 2025
A Cell-Based Functional Assay Calibrated for Analysis of MSH6 and MSH2 Mismatch Repair Gene VariantsElizabeth Szabo, Emily Blackburn, Olivia N Amodeo, et al.Pageof 575