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261 results

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Page 1
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brøndum-Nielsen K, Scambler PJ, et al. Ryan AK, et al. Among authors: mckeown c. J Med Genet. 1997 Oct;34(10):798-804. doi: 10.1136/jmg.34.10.798. J Med Genet. 1997. PMID: 9350810 Free PMC article.
Noonan's and DiGeorge syndromes with monosomy 22q11.
Wilson DI, Britton SB, McKeown C, Kelly D, Cross IE, Strobel S, Scambler PJ. Wilson DI, et al. Among authors: mckeown c. Arch Dis Child. 1993 Feb;68(2):187-9. doi: 10.1136/adc.68.2.187. Arch Dis Child. 1993. PMID: 8481040 Free PMC article.
Molecular cytogenetics of Prader-Willi and Angelman syndromes.
Hultén M, Hardy G, Gould C, Stergianou R, Waters J, McKeown C. Hultén M, et al. Among authors: mckeown c. Lancet. 1992 Jan 25;339(8787):243-4. doi: 10.1016/0140-6736(92)90043-3. Lancet. 1992. PMID: 1346195 No abstract available.
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract.
Goodman FR, Mundlos S, Muragaki Y, Donnai D, Giovannucci-Uzielli ML, Lapi E, Majewski F, McGaughran J, McKeown C, Reardon W, Upton J, Winter RM, Olsen BR, Scambler PJ. Goodman FR, et al. Among authors: mckeown c. Proc Natl Acad Sci U S A. 1997 Jul 8;94(14):7458-63. doi: 10.1073/pnas.94.14.7458. Proc Natl Acad Sci U S A. 1997. PMID: 9207113 Free PMC article.
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Grozeva D, Carss K, Spasic-Boskovic O, Tejada MI, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S; Italian X-linked Mental Retardation Project; UK10K Consortium; GOLD Consortium; Hurles M, Raymond FL. Grozeva D, et al. Hum Mutat. 2015 Dec;36(12):1197-204. doi: 10.1002/humu.22901. Epub 2015 Sep 30. Hum Mutat. 2015. PMID: 26350204 Free PMC article.
261 results