Showing results (1-10 of 32) with videos related to
Sort By:
Pageof 4
Scientific Reports|November 16, 2019
RBV: Read balance validator, a tool for prioritising copy number variations in germline conditionsWhitney Whitford, Klaus Lehnert, Russell G Snell, et al.Journal of Biomedical Informatics|April 10, 2019
Evaluation of the performance of copy number variant prediction tools for the detection of deletions from whole genome sequencing dataWhitney Whitford, Klaus Lehnert, Russell G Snell, et al.Life Science Alliance|August 8, 2023
De novo network analysis reveals autism causal genes and developmental links to co-occurring traitsCatriona J Miller, Evgeniia Golovina, Joerg S Wicker, et al.British Journal of Pharmacology|May 27, 2024
Single nucleotide polymorphisms in the cannabinoid CB<sub>2</sub> receptor: Molecular pharmacology and disease associationsTahira Foyzun, Maddie Whiting, Kate K Velasco, et al.Life Science Alliance|February 25, 2025
Unraveling ADHD: genes, co-occurring traits, and developmental dynamicsCatriona J Miller, Evgeniia Golovina, Sreemol Gokuladhas, et al.Molecular Genetics & Genomic Medicine|December 26, 2023
A novel 11 base pair deletion in KMT2C resulting in Kleefstra syndrome 2Whitney Whitford, Juliet Taylor, Ian Hayes, et al.Journal of Human Genetics|July 10, 2021
Novel PRMT7 mutation in a rare case of dysmorphism and intellectual disabilityJessie Poquérusse, Whitney Whitford, Juliet Taylor, et al.Scientific Reports|May 20, 2022
Proof of concept for multiplex amplicon sequencing for mutation identification using the MinION nanopore sequencerWhitney Whitford, Victoria Hawkins, Kriebashne S Moodley, et al.Molecular Brain|February 10, 2022
Loss of Drosophila Coq8 results in impaired survival, locomotor deficits and photoreceptor degenerationAngelia J Hura, Hannah R Hawley, Wei Jun Tan, et al.Disease Models & Mechanisms|September 30, 2018
Modelling brain dopamine-serotonin vesicular transport disease in <i>Caenorhabditis elegans</i>Alexander T Young, Kien N Ly, Callum Wilson, et al.Pageof 4