受强制性开放获取政策约束的文章 - Patricia J Sullivan了解详情
无法在其他位置公开访问的文章：2 篇
Nationwide, couple-based genetic carrier screening
EP Kirk, MB Delatycki, AD Archibald, E Tutty, J Caruana, JL Halliday, ...
New England Journal of Medicine 391 (20), 1877-1889, 2024
强制性开放获取政策： National Health and Medical Research Council, Australia
Beyond DNA sequencing: genetic kidney disorders related to altered splicing
HJ McCarthy, AJ Mallett, P Sullivan, MJ Cowley, AC Mallawaarachchi
Nephrology Dialysis Transplantation, gfae022, 2024
强制性开放获取政策： Medical Research Future Fund, Australia
可在其他位置公开访问的文章：9 篇
Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer
M Wong, C Mayoh, LMS Lau, DA Khuong-Quang, M Pinese, A Kumar, ...
Nature medicine 26 (11), 1742-1753, 2020
强制性开放获取政策： National Health and Medical Research Council, Australia, Cancer Research UK …
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
AM Bournazos, LG Riley, S Bommireddipalli, L Ades, LS Akesson, ...
Genetics in Medicine 24 (1), 130-145, 2022
强制性开放获取政策： National Health and Medical Research Council, Australia, Medical Research …
Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications
PJ Sullivan, V Gayevskiy, RL Davis, M Wong, C Mayoh, ...
Genome Biology 24 (1), 118, 2023
强制性开放获取政策： National Health and Medical Research Council, Australia
A KLHL40 3′ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism
LNH Dofash, G Monahan, E Servián-Morilla, E Rivas, F Faiz, P Sullivan, ...
Human Molecular Genetics, 2022
强制性开放获取政策： National Health and Medical Research Council, Australia
SpliceVarDB: a comprehensive database of experimentally validated human splicing variants
PJ Sullivan, JMW Quinn, W Wu, M Pinese, MJ Cowley
The American Journal of Human Genetics 111 (10), 2164-2175, 2024
强制性开放获取政策： National Health and Medical Research Council, Australia
Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with …
LI Rudaks, E Watson, C Oboudiyat, KR Kumar, P Sullivan, MJ Cowley, ...
American Journal of Medical Genetics Part A 188 (7), 2226-2230, 2022
强制性开放获取政策： National Health and Medical Research Council, Australia
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum
S Coppens, N Deconinck, P Sullivan, A Smolnikov, JS Clayton, KR Griffin, ...
Annals of Neurology, 2025
强制性开放获取政策： National Health and Medical Research Council, Australia, National Institute …
Novel paediatric case of a spinal high-grade astrocytoma with piloid features in a patient with Noonan Syndrome
J Staunton, P Ajuyah, A Harris, C Mayoh, M Wong, M Rumford, ...
NPJ Precision Oncology 8 (1), 236, 2024
强制性开放获取政策： National Health and Medical Research Council, Australia
Consensus guidelines for eligibility assessment of pathogenic variants to antisense oligonucleotide treatments
D Cheerie, M Meserve, D Beijer, C Kaiwar, L Newton, ALT Tavares, ...
medRxiv, 2024.09. 27.24314122, 2024
强制性开放获取政策： Netherlands Organisation for Health Research and Development
出版信息和资助信息由计算机程序自动确定