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Autosomal dominant diseases

Raman difference spectroscopy and U-Net convolutional neural network for molecular analysis of cutaneous neurofibroma

Levi Matthies, Hendrik Amir-Kabirian, [ ... ], Reinhard E. Friedrich

CRISPR-Cas9-guided amplification-free genomic diagnosis for familial hypercholesterolemia using nanopore sequencing

Sijia Xu, Hiroki Shiomi, [ ... ], Koh Ono

Characterizing differences in retinal and choroidal microvasculature and structure in individuals with Huntington’s Disease compared to healthy controls: A cross-sectional prospective study

Suzanna Joseph, Cason B. Robbins, [ ... ], Sharon Fekrat

Detecting microsatellite instability in colorectal cancer using Transformer-based colonoscopy image classification and retrieval

Chung-Ming Lo, Jeng-Kai Jiang, Chun-Chi Lin

Resiliency outcomes after participation in an asynchronous web-based platform for adults with neurofibromatosis: The NF-Web study

Katherine E. Wang, Ana-Maria Vranceanu, Ethan G. Lester

Transposable element insertions in 1000 Swedish individuals

Kristine Bilgrav Saether, Daniel Nilsson, [ ... ], Anna Lindstrand

High concordance rate of capillary electrophoresis workflow for microsatellite instability analysis and mismatch repair (MMR) immunostaining in colorectal carcinoma

Wenya Huang, Chung-Liang Ho, [ ... ], Yi-Lin Chen

Is retina affected in Huntington’s disease? Is optical coherence tomography a good biomarker?

Pavel Dusek, Ales Kopal, [ ... ], Jana Lizrova Preiningerova

Merlin tumor suppressor function is regulated by PIP₂-mediated dimerization

Robert F. Hennigan, Craig S. Thomson, [ ... ], Nancy Ratner

Identification of therapeutic sensitivities in a spheroid drug combination screen of Neurofibromatosis Type I associated High Grade Gliomas

Jacquelyn Dougherty, Kyra Harvey, [ ... ], Thomas De Raedt

The Genomic landscape of short tandem repeats across multiple ancestries

Prashanth Vijayaraghavan, Sergey Batalov, [ ... ], Matthew Bainbridge

Reduction in PA28αβ activation in HD mouse brain correlates to increased mHTT aggregation in cell models

Karlijne W. Geijtenbeek, Jolien Janzen, [ ... ], Sabine Schipper-Krom

miR-20a is upregulated in serum from domestic feline with PKD1 mutation

Marcela Correa Scalon, Christine Souza Martins, [ ... ], Giane Regina Paludo

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