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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2011 | 2 |
2012 | 2 |
2024 | 0 |
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4 results
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Page 1
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
Hum Mutat. 2012 Apr;33(4):728-40. doi: 10.1002/humu.22037.
Hum Mutat. 2012.
PMID: 22290657
Free PMC article.
Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.
Talkowski ME, Ernst C, Heilbut A, Chiang C, Hanscom C, Lindgren A, Kirby A, Liu S, Muddukrishna B, Ohsumi TK, Shen Y, Borowsky M, Daly MJ, Morton CC, Gusella JF.
Talkowski ME, et al.
Am J Hum Genet. 2011 Apr 8;88(4):469-81. doi: 10.1016/j.ajhg.2011.03.013.
Am J Hum Genet. 2011.
PMID: 21473983
Free PMC article.
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KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.
Golzio C, Willer J, Talkowski ME, Oh EC, Taniguchi Y, Jacquemont S, Reymond A, Sun M, Sawa A, Gusella JF, Kamiya A, Beckmann JS, Katsanis N.
Golzio C, et al.
Nature. 2012 May 16;485(7398):363-7. doi: 10.1038/nature11091.
Nature. 2012.
PMID: 22596160
Free PMC article.
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Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH.
Talkowski ME, et al.
Am J Hum Genet. 2011 Oct 7;89(4):551-63. doi: 10.1016/j.ajhg.2011.09.011.
Am J Hum Genet. 2011.
PMID: 21981781
Free PMC article.
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