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1,071 results

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De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, Yang Y, Gibbs RA. Xia F, et al. Among authors: nash m. Am J Hum Genet. 2014 May 1;94(5):784-9. doi: 10.1016/j.ajhg.2014.04.006. Am J Hum Genet. 2014. PMID: 24791903 Free PMC article.
Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.
Van Bergen NJ, Hock DH, Spencer L, Massey S, Stait T, Stark Z, Lunke S, Roesley A, Peters H, Lee JY, Le Fevre A, Heath O, Mignone C, Yang JY, Ryan MM, D'Arcy C, Nash M, Smith S, Caruana NJ, Thorburn DR, Stroud DA, White SM, Christodoulou J, Brown NJ. Van Bergen NJ, et al. Among authors: nash m. Int J Mol Sci. 2022 Jan 17;23(2):986. doi: 10.3390/ijms23020986. Int J Mol Sci. 2022. PMID: 35055180 Free PMC article.
Infantile Hepatic Hemangiomas.
Butters CT, Nash M. Butters CT, et al. Among authors: nash m. N Engl J Med. 2021 Jul 15;385(3):e10. doi: 10.1056/NEJMicm1907892. N Engl J Med. 2021. PMID: 34260839 No abstract available.
Unusual Cause of Weight Loss, Fever and Sweats.
Bills H, Francis P, Heaton V, Nash M. Bills H, et al. Among authors: nash m. J Paediatr Child Health. 2018 Aug;54(8):930-931. doi: 10.1111/jpc.14107. J Paediatr Child Health. 2018. PMID: 30133892 No abstract available.
Scurvy: forgotten but not gone.
Akikusa JD, Garrick D, Nash MC. Akikusa JD, et al. Among authors: nash mc. J Paediatr Child Health. 2003 Jan-Feb;39(1):75-7. doi: 10.1046/j.1440-1754.2003.00093.x. J Paediatr Child Health. 2003. PMID: 12542822
Weight loss and purpura.
Snape MD, Sawyer SM, Nash MC. Snape MD, et al. Among authors: nash mc. Lancet. 1999 Oct 16;354(9187):1352. doi: 10.1016/S0140-6736(99)08095-2. Lancet. 1999. PMID: 10533865 No abstract available.
1,071 results