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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235.
J Clin Invest. 2024.
PMID: 37962958
Free PMC article.
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.
Schaaf CP, Boone PM, Sampath S, Williams C, Bader PI, Mueller JM, Shchelochkov OA, Brown CW, Crawford HP, Phalen JA, Tartaglia NR, Evans P, Campbell WM, Tsai AC, Parsley L, Grayson SW, Scheuerle A, Luzzi CD, Thomas SK, Eng PA, Kang SH, Patel A, Stankiewicz P, Cheung SW.
Schaaf CP, et al.
Eur J Hum Genet. 2012 Dec;20(12):1240-7. doi: 10.1038/ejhg.2012.95. Epub 2012 May 23.
Eur J Hum Genet. 2012.
PMID: 22617343
Free PMC article.
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Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx.
Parsley L, Bellus G, Handler M, Tsai AC.
Parsley L, et al.
Am J Med Genet A. 2011 Nov;155A(11):2766-70. doi: 10.1002/ajmg.a.34227. Epub 2011 Sep 19.
Am J Med Genet A. 2011.
PMID: 21932317
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The patient with infantile seizures.
Parsley LK, Thomas JA.
Parsley LK, et al.
Curr Opin Pediatr. 2011 Dec;23(6):693-9. doi: 10.1097/MOP.0b013e32834b930c.
Curr Opin Pediatr. 2011.
PMID: 21926623
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