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KBG syndrome involving a single-nucleotide duplication in ANKRD11.
Kleyner R, Malcolmson J, Tegay D, Ward K, Maughan A, Maughan G, Nelson L, Wang K, Robison R, Lyon GJ. Kleyner R, et al. Among authors: nelson l. Cold Spring Harb Mol Case Stud. 2016 Nov;2(6):a001131. doi: 10.1101/mcs.a001131. Cold Spring Harb Mol Case Stud. 2016. PMID: 27900361 Free PMC article.
SCN8A mutation in a child presenting with seizures and developmental delays.
Malcolmson J, Kleyner R, Tegay D, Adams W, Ward K, Coppinger J, Nelson L, Meisler MH, Wang K, Robison R, Lyon GJ. Malcolmson J, et al. Among authors: nelson l. Cold Spring Harb Mol Case Stud. 2016 Nov;2(6):a001073. doi: 10.1101/mcs.a001073. Cold Spring Harb Mol Case Stud. 2016. PMID: 27900360 Free PMC article.
Tetranucleotide repeat polymorphism at the D8S346 locus.
Riley R, Nelson L, Lu J, Robertson M, Ward K. Riley R, et al. Among authors: nelson l. Hum Mol Genet. 1994 Jan;3(1):214. doi: 10.1093/hmg/3.1.214. Hum Mol Genet. 1994. PMID: 8162041 No abstract available.
Tetranucleotide repeat polymorphism at the D8S344 locus.
Ward K, Riley R, Lu J, Robertson M, Nelson L. Ward K, et al. Among authors: nelson l. Hum Mol Genet. 1993 Jul;2(7):1087. doi: 10.1093/hmg/2.7.1087. Hum Mol Genet. 1993. PMID: 8364566 No abstract available.
Tetranucleotide repeat polymorphism at the D8S307 locus.
Ward K, Riley R, Lu J, Robertson M, Nelson L. Ward K, et al. Among authors: nelson l. Hum Mol Genet. 1993 May;2(5):615. doi: 10.1093/hmg/2.5.615-a. Hum Mol Genet. 1993. PMID: 8518814 No abstract available.
Tetranucleotide repeat polymorphism at the D8S492 locus.
Ward K, Nelson L, Lu J, Petterson M, Fillmore K, Riley R. Ward K, et al. Among authors: nelson l. Hum Mol Genet. 1994 Oct;3(10):1913. doi: 10.1093/hmg/3.10.1913. Hum Mol Genet. 1994. PMID: 7849728 No abstract available.
3,152 results