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Journal of Medical Genetics|February 1, 2011
High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasiaSerena Nik-Zainal, Reiner Strick, Mekayla Storer, et al.Plos One|May 27, 2021
Patient-reported outcome measures for pain in autosomal dominant polycystic kidney disease: A systematic reviewPatrizia Natale, Elyssa Hannan, Bénédicte Sautenet, et al.Kidney International Reports|February 24, 2025
Validating the SONG-PKD Pain Instrument, a Core Outcome Measure for Pain in ADPKDRosanna Cazzolli, Angela Ju, Patrizia Natale, et al.Kidney International|May 26, 2020
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1Eric Olinger, Patrick Hofmann, Kendrah Kidd, et al.Clinical Kidney Journal|February 25, 2022
Establishing a core outcome measure for pain in patients with autosomal dominant polycystic kidney disease: a consensus workshop reportPatrizia Natale, Ronald D Perrone, Allison Tong, et al.American Journal of Human Genetics|January 17, 2017
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent NephronophthisisMaxence S Macia, Jan Halbritter, Marion Delous, et al.American Journal of Human Genetics|September 21, 2022
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndromeSanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, et al.American Journal of Medical Genetics. Part A|October 8, 2020
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrumYanick J Crow, Heather Marshall, Gillian I Rice, et al.Pageof 4