학술논문

1 . Academic Journal

Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140

저자: by Winterbottom, Jean; Simms, Roslyn J.; Caroli, Anna; Demoulin, Nathalie; Furlano, Monica, et al.
소스: In American Journal of Kidney Diseases April 2025 85(4):465-476

7 . Academic Journal

Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease

저자: by Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya, et al.
소스: In Gastroenterology May 2024 166(5):902-914

7 . Academic Journal

Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure

저자: by Nolan, Joshua; Buchanan, James; Taylor, John; Almeida, Joao; Bedenham, Tina, et al.
소스: In Genetics in Medicine March 2024 26(3)

7 . Report

PersiST: Robust Identification of Spatially Variable Features in Spatial Omics Datasets via Topological Data Analysis

저자: by Boyle, James; Hamm, Gregory; Williams, Eleanor; Hartman, Robin JG; Soderburg, Magnus, et al.
소스

7 . Academic Journal

Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease

저자: by Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya, et al.
소스: In Kidney International November 2023 104(5):995-1007

7 . Academic Journal

Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease

저자: by Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya, et al.
소스: In Kidney International November 2023 104(5):975-984

7 . Academic Journal

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

저자: by Pochiero, Francesca; Mari, Francesco; Ramesh, Venkateswaran; Capra, Valeria; Mancardi, Margherita, et al.
소스: In The American Journal of Human Genetics 3 August 2023 110(8):1356-1376

7 . Academic Journal

Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene

저자: by Ingram, Stuart; Taylor, Rachel; Manson, Forbes; Sergouniotis, Panagiotis; Pontikos, Nikolas, et al.
소스: In Ophthalmology January 2023 130(1):68-76

7 . Academic Journal

Accelerated partner therapy contact tracing for people with chlamydia (LUSTRUM): a crossover cluster-randomised controlled trial

저자: by Estcourt, Claudia S; Stirrup, Oliver; Copas, Andrew; Low, Nicola; Mapp, Fiona, et al.
소스: In The Lancet Public Health October 2022 7(10):e853-e865

7 . Academic Journal

The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources

저자: by DiStefano, Marina T.; Goehringer, Scott; Babb, Lawrence; Alkuraya, Fowzan S.; Amberger, Joanna, et al.
소스: In Genetics in Medicine August 2022 24(8):1732-1742

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