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141 results

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Page 1
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR; University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program; Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR. Paine I, et al. Among authors: van esch h, van den veyver ib. Am J Hum Genet. 2019 Aug 1;105(2):302-316. doi: 10.1016/j.ajhg.2019.06.001. Epub 2019 Jun 27. Am J Hum Genet. 2019. PMID: 31256877 Free PMC article.
Multicenter clinical experience with non-invasive cell-free DNA screening for monosomy X and related X-chromosome variants.
Bedei I, Gehrke T, Gloning KP, Meyer-Wittkopf M, Willner D, Krapp M, Scharf A, Degenhardt J, Heling KS, Kozlowski P, Trautmann K, Jahns KM, Geipel A, Baumüller JE, Wilhelm L, Gottschalk I, Schröer A, Graf A, Wolter A, Schenk J, Weber A, Van den Veyver IB, Axt-Fliedner R. Bedei I, et al. Among authors: van den veyver ib. Prenat Diagn. 2023 Feb;43(2):192-206. doi: 10.1002/pd.6320. Epub 2023 Feb 9. Prenat Diagn. 2023. PMID: 36726284
Neuroimaging aspects of Aicardi syndrome.
Hopkins B, Sutton VR, Lewis RA, Van den Veyver I, Clark G. Hopkins B, et al. Am J Med Genet A. 2008 Nov 15;146A(22):2871-8. doi: 10.1002/ajmg.a.32537. Am J Med Genet A. 2008. PMID: 18925666 Free PMC article.
Non-random X chromosome inactivation in Aicardi syndrome.
Eble TN, Sutton VR, Sangi-Haghpeykar H, Wang X, Jin W, Lewis RA, Fang P, Van den Veyver IB. Eble TN, et al. Among authors: van den veyver ib. Hum Genet. 2009 Mar;125(2):211-6. doi: 10.1007/s00439-008-0615-4. Epub 2009 Jan 1. Hum Genet. 2009. PMID: 19116729 Free PMC article.
A genome-wide screen for copy number alterations in Aicardi syndrome.
Wang X, Sutton VR, Eble TN, Lewis RA, Gunaratne P, Patel A, Van den Veyver IB. Wang X, et al. Among authors: van den veyver ib. Am J Med Genet A. 2009 Oct;149A(10):2113-21. doi: 10.1002/ajmg.a.32976. Am J Med Genet A. 2009. PMID: 19760649 Free PMC article.
Management of ornithine transcarbamylase deficiency in pregnancy.
Mendez-Figueroa H, Lamance K, Sutton VR, Aagaard-Tillery K, Van den Veyver I. Mendez-Figueroa H, et al. Am J Perinatol. 2010 Nov;27(10):775-84. doi: 10.1055/s-0030-1254240. Epub 2010 May 10. Am J Perinatol. 2010. PMID: 20458665 Review.
Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region.
Brunetti-Pierri N, Lachman R, Lee K, Leal SM, Piccolo P, Van Den Veyver IB, Bacino CA. Brunetti-Pierri N, et al. Among authors: van den veyver ib. Am J Med Genet A. 2010 Jul;152A(7):1825-31. doi: 10.1002/ajmg.a.33470. Am J Med Genet A. 2010. PMID: 20583181 Free PMC article.
141 results