Nelson SF - Search Results

1

Novel NUDT2 variant causes intellectual disability and polyneuropathy.

Diaz F, Khosa S, Niyazov D, Lee H, Person R, Morrow MM, Signer R, Dorrani N, Zheng A, Herzog M, Freundlich R; Undiagnosed Diseases Network; Birath JB, Cervantes-Manzo Y, Martinez-Agosto JA, Palmer C, Nelson SF, Fogel BL, Mishra SK. Diaz F, et al. Among authors: nelson sf. Ann Clin Transl Neurol. 2020 Nov;7(11):2320-2325. doi: 10.1002/acn3.51209. Epub 2020 Oct 15. Ann Clin Transl Neurol. 2020. PMID: 33058507 Free PMC article.

2

A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity.

Lee H, Jen JC, Wang H, Chen Z, Mamsa H, Sabatti C, Baloh RW, Nelson SF. Lee H, et al. Among authors: nelson sf. Hum Mol Genet. 2006 Jan 15;15(2):251-8. doi: 10.1093/hmg/ddi441. Epub 2005 Dec 5. Hum Mol Genet. 2006. PMID: 16330481

3

Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure.

Lacombe A, Lee H, Zahed L, Choucair M, Muller JM, Nelson SF, Salameh W, Vilain E. Lacombe A, et al. Among authors: nelson sf. Am J Hum Genet. 2006 Jul;79(1):113-9. doi: 10.1086/505406. Epub 2006 May 26. Am J Hum Genet. 2006. PMID: 16773570 Free PMC article.

4

Sequence variant in the laminin gamma1 (LAMC1) gene associated with familial pelvic organ prolapse.

Nikolova G, Lee H, Berkovitz S, Nelson S, Sinsheimer J, Vilain E, Rodríguez LV. Nikolova G, et al. Hum Genet. 2007 Feb;120(6):847-56. doi: 10.1007/s00439-006-0267-1. Epub 2006 Oct 5. Hum Genet. 2007. PMID: 17021862

5

A new episodic ataxia syndrome with linkage to chromosome 19q13.

Kerber KA, Jen JC, Lee H, Nelson SF, Baloh RW. Kerber KA, et al. Among authors: nelson sf. Arch Neurol. 2007 May;64(5):749-52. doi: 10.1001/archneur.64.5.749. Arch Neurol. 2007. PMID: 17502476

6

Association of progesterone receptor with migraine-associated vertigo.

Lee H, Sininger L, Jen JC, Cha YH, Baloh RW, Nelson SF. Lee H, et al. Among authors: nelson sf. Neurogenetics. 2007 Aug;8(3):195-200. doi: 10.1007/s10048-007-0091-3. Epub 2007 Jul 3. Neurogenetics. 2007. PMID: 17609999

7

Phenotypic and genetic analysis of a large family with migraine-associated vertigo.

Lee H, Jen JC, Cha YH, Nelson SF, Baloh RW. Lee H, et al. Among authors: nelson sf. Headache. 2008 Nov-Dec;48(10):1460-7. doi: 10.1111/j.1526-4610.2007.01002.x. Epub 2007 Dec 11. Headache. 2008. PMID: 18081823 Free PMC article.

8

Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing.

Lee H, O'Connor BD, Merriman B, Funari VA, Homer N, Chen Z, Cohn DH, Nelson SF. Lee H, et al. Among authors: nelson sf. BMC Genomics. 2009 Dec 31;10:646. doi: 10.1186/1471-2164-10-646. BMC Genomics. 2009. PMID: 20043857 Free PMC article.

9

U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell line.

Clark MJ, Homer N, O'Connor BD, Chen Z, Eskin A, Lee H, Merriman B, Nelson SF. Clark MJ, et al. Among authors: nelson sf. PLoS Genet. 2010 Jan 29;6(1):e1000832. doi: 10.1371/journal.pgen.1000832. PLoS Genet. 2010. PMID: 20126413 Free PMC article.

10

Exome sequencing identifies PDE4D mutations in acrodysostosis.

Lee H, Graham JM Jr, Rimoin DL, Lachman RS, Krejci P, Tompson SW, Nelson SF, Krakow D, Cohn DH. Lee H, et al. Among authors: nelson sf. Am J Hum Genet. 2012 Apr 6;90(4):746-51. doi: 10.1016/j.ajhg.2012.03.004. Epub 2012 Mar 29. Am J Hum Genet. 2012. PMID: 22464252 Free PMC article.

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