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Human Mutation|June 3, 2018
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophiesMert Karakaya, Markus Storbeck, Eike A Strathmann, et al.Nature Communications|March 14, 2019
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactylyNajim Lahrouchi, Aman George, Ilham Ratbi, et al.European Journal of Human Genetics : EJHG|April 8, 2010
A sequence variant on 17q21 is associated with age at onset and severity of asthmaEva Halapi, Daniel F Gudbjartsson, Gudrun M Jonsdottir, et al.Nature Communications|October 31, 2019
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3Rahel T Florian, Florian Kraft, Elsa Leitão, et al.Pageof 3