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115 results

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Page 1
Kabuki syndrome: a review study of three hundred patients.
Wessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ. Wessels MW, et al. Among authors: brooks as. Clin Dysmorphol. 2002 Apr;11(2):95-102. doi: 10.1097/00019605-200204000-00004. Clin Dysmorphol. 2002. PMID: 12002156 Review.
Unexpected life-threatening complications in Kabuki syndrome.
van Haelst MM, Brooks AS, Hoogeboom J, Wessels MW, Tibboel D, de Jongste JC, den Hollander JC, Bongers-Schokking JJ, Niermeijer MF, Willems PJ. van Haelst MM, et al. Among authors: brooks as. Am J Med Genet. 2000 Sep 11;94(2):170-3. doi: 10.1002/1096-8628(20000911)94:2<170::aid-ajmg10>3.0.co;2-2. Am J Med Genet. 2000. PMID: 10982974
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.
Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA, Hofstra RM. Brooks AS, et al. Am J Hum Genet. 2005 Jul;77(1):120-6. doi: 10.1086/431244. Epub 2005 May 9. Am J Hum Genet. 2005. PMID: 15883926 Free PMC article.
Structural and numerical changes of chromosome X in patients with esophageal atresia.
Brosens E, de Jong EM, Barakat TS, Eussen BH, D'haene B, De Baere E, Verdin H, Poddighe PJ, Galjaard RJ, Gribnau J, Brooks AS, Tibboel D, de Klein A. Brosens E, et al. Among authors: brooks as. Eur J Hum Genet. 2014 Sep;22(9):1077-84. doi: 10.1038/ejhg.2013.295. Epub 2014 Jan 8. Eur J Hum Genet. 2014. PMID: 24398799 Free PMC article.
Two brothers with Goldberg-Shprintzen syndrome.
Murphy HR, Carver MJ, Brooks AS, Kenny SE, Ellis IH. Murphy HR, et al. Among authors: brooks as. Clin Dysmorphol. 2006 Jul;15(3):165-169. doi: 10.1097/01.mcd.0000204991.84861.c9. Clin Dysmorphol. 2006. PMID: 16760737
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.
Halim D, Wilson MP, Oliver D, Brosens E, Verheij JB, Han Y, Nanda V, Lyu Q, Doukas M, Stoop H, Brouwer RW, van IJcken WF, Slivano OJ, Burns AJ, Christie CK, de Mesy Bentley KL, Brooks AS, Tibboel D, Xu S, Jin ZG, Djuwantono T, Yan W, Alves MM, Hofstra RM, Miano JM. Halim D, et al. Among authors: brooks as. Proc Natl Acad Sci U S A. 2017 Mar 28;114(13):E2739-E2747. doi: 10.1073/pnas.1620507114. Epub 2017 Mar 14. Proc Natl Acad Sci U S A. 2017. PMID: 28292896 Free PMC article.
115 results