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Cellular and Molecular Life Sciences : CMLS|March 31, 2023
Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel openingLingling Xie, Miranda J McDaniel, Riley E Perszyk, et al.Nature|November 24, 2006
Global variation in copy number in the human genomeRichard Redon, Shumpei Ishikawa, Karen R Fitch, et al.European Journal of Human Genetics : EJHG|April 9, 2015
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndromeJulián Nevado, Jill A Rosenfeld, Rocío Mena, et al.The New England Journal of Medicine|September 12, 2008
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypesHeather C Mefford, Andrew J Sharp, Carl Baker, et al.Science (New York, N.Y.)|April 12, 2003
Human chromosome 7: DNA sequence and biologyStephen W Scherer, Joseph Cheung, Jeffrey R MacDonald, et al.Nature|June 16, 2007
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project, Ewan Birney, John A Stamatoyannopoulos, et al.Pageof 2