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Year Number of Results
1958 1
2003 1
2007 1
2010 1
2011 1
2019 1
2023 0

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Page 1
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.
Zweier M, Begemann A, McWalter K, Cho MT, Abela L, Banka S, Behring B, Berger A, Brown CW, Carneiro M, Chen J, Cooper GM; Deciphering Developmental Disorders (DDD) Study; Finnila CR, Guillen Sacoto MJ, Henderson A, Hüffmeier U, Joset P, Kerr B, Lesca G, Leszinski GS, McDermott JH, Meltzer MR, Monaghan KG, Mostafavi R, Õunap K, Plecko B, Powis Z, Purcarin G, Reimand T, Riedhammer KM, Schreiber JM, Sirsi D, Wierenga KJ, Wojcik MH, Papuc SM, Steindl K, Sticht H, Rauch A. Zweier M, et al. Among authors: meltzer mr. Eur J Hum Genet. 2019 May;27(5):747-759. doi: 10.1038/s41431-018-0331-z. Epub 2019 Jan 21. Eur J Hum Genet. 2019. PMID: 30664714 Free PMC article.
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.
Schultz JM, Bhatti R, Madeo AC, Turriff A, Muskett JA, Zalewski CK, King KA, Ahmed ZM, Riazuddin S, Ahmad N, Hussain Z, Qasim M, Kahn SN, Meltzer MR, Liu XZ, Munisamy M, Ghosh M, Rehm HL, Tsilou ET, Griffith AJ, Zein WM, Brewer CC, Riazuddin S, Friedman TB. Schultz JM, et al. Among authors: meltzer mr. J Med Genet. 2011 Nov;48(11):767-75. doi: 10.1136/jmedgenet-2011-100262. Epub 2011 Sep 22. J Med Genet. 2011. PMID: 21940737
Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.
Jaakson K, Zernant J, Külm M, Hutchinson A, Tonisson N, Glavac D, Ravnik-Glavac M, Hawlina M, Meltzer MR, Caruso RC, Testa F, Maugeri A, Hoyng CB, Gouras P, Simonelli F, Lewis RA, Lupski JR, Cremers FP, Allikmets R. Jaakson K, et al. Among authors: meltzer mr. Hum Mutat. 2003 Nov;22(5):395-403. doi: 10.1002/humu.10263. Hum Mutat. 2003. PMID: 14517951
A mammalian activity rhythm independent of temperature.
FOLK GE Jr, MELTZER MR, GRINDELAND RE. FOLK GE Jr, et al. Among authors: meltzer mr. Nature. 1958 Jun 7;181(4623):1598. doi: 10.1038/1811598a0. Nature. 1958. PMID: 13566083 No abstract available.