Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Death and SMN2[original query] |
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Insights into genotype-phenotype correlations in spinal muscular atrophy: a retrospective study of 103 patients. Muscle & nerve 2011 Jan 43 (1): 26-30. Petit Florence, Cuisset Jean-Marie, Rouaix-Emery Nathalie, Cancés Claude, Sablonnière Bernard, Bieth Eric, Moerman Alexandre, Sukno Sylvie, Hardy Noah, Holder-Espinasse Muriel, Manouvrier-Hanu Sylvie, Vallée Lou |
Association of copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein gene with the natural history in a Chinese spinal muscular atrophy cohort. Journal of child neurology 2015 Mar 30 (4): 429-36. Qu Yu-jin, Ge Xiu-shan, Bai Jin-li, Wang Li-wen, Cao Yan-yan, Lu Yan-yu, Jin Yu-wei, Wang Hong, Song Fa |
Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR. Neurogenetics 2021 1 22 (1): 53-64. Stabley Deborah L, Holbrook Jennifer, Scavina Mena, Crawford Thomas O, Swoboda Kathryn J, Robbins Katherine M, Butchbach Matthew E |
Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing. American journal of human genetics 2023 1 110 (2): 240-250. Chen Xiao, Harting John, Farrow Emily, Thiffault Isabelle, Kasperaviciute Dalia, , Hoischen Alexander, Gilissen Christian, Pastinen Tomi, Eberle Michael |
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