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Stem Cell Research|June 21, 2022
Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 geneIsabella S Suleski, Robert Smith, Christina Vo, et al.
Human Molecular Genetics|January 3, 2018
Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy miceJennifer A Tinklenberg, Emily M Siebers, Margaret J Beatka, et al.
Expert Review of Vaccines|November 16, 2018
Development of a measure to assess vaccine confidence among men who have sex with menPaula M Frew, Ian W Holloway, Cameron Goldbeck, et al.
Genome Research|February 21, 1998
Contig maps and genomic sequencing identify candidate genes in the usher 1C locusM J Higgins, C D Day, N J Smilinich, et al.
Genomics|August 1, 1997
A 1-Mb physical map and PAC contig of the imprinted domain in 11p15.5 that contains TAPA1 and the BWSCR1/WT2 regionL H Reid, C Davies, P R Cooper, et al.
Plos One|February 9, 2017
Identification of a vacuolar proton channel that triggers the bioluminescent flash in dinoflagellatesJuan D Rodriguez, Saddef Haq, Tsvetan Bachvaroff, et al.
Clinical and Translational Gastroenterology|November 3, 2018
Clinical Heterogeneity of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A French Multicenter Retrospective StudyR Duclaux-Loras, F Charbit-Henrion, B Neven, et al.
Archives of Otolaryngology--Head & Neck Surgery|May 23, 2007
Comparative genomic instabilities of thyroid and colon cancersDaniel L Stoler, Norma J Nowak, Sei-ichi Matsui, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 17, 2020
Thymus-derived B cell clones persist in the circulation after thymectomy in myasthenia gravisRuoyi Jiang, Kenneth B Hoehn, Casey S Lee, et al.
Neuromuscular Disorders : NMD|September 2, 2006
Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)William Wallefeld, Sabine Krause, Kristen J Nowak, et al.
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