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92 results

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Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome.
Trevino CE, Holleman AM, Corbitt H, Maslen CL, Rosser TC, Cutler DJ, Johnston HR, Rambo-Martin BL, Oberoi J, Dooley KJ, Capone GT, Reeves RH, Cordell HJ, Keavney BD, Agopian AJ, Goldmuntz E, Gruber PJ, O'Brien JE Jr, Bittel DC, Wadhwa L, Cua CL, Moskowitz IP, Mulle JG, Epstein MP, Sherman SL, Zwick ME. Trevino CE, et al. Among authors: mulle jg. Sci Rep. 2020 Oct 22;10(1):18051. doi: 10.1038/s41598-020-74650-4. Sci Rep. 2020. PMID: 33093519 Free PMC article.
Microarray-based mutation detection in the dystrophin gene.
Hegde MR, Chin EL, Mulle JG, Okou DT, Warren ST, Zwick ME. Hegde MR, et al. Among authors: mulle jg. Hum Mutat. 2008 Sep;29(9):1091-9. doi: 10.1002/humu.20831. Hum Mutat. 2008. PMID: 18663755 Free PMC article.
Exome sequencing identifies a novel FOXP3 mutation in a 2-generation family with inflammatory bowel disease.
Okou DT, Mondal K, Faubion WA, Kobrynski LJ, Denson LA, Mulle JG, Ramachandran D, Xiong Y, Svingen P, Patel V, Bose P, Waters JP, Prahalad S, Cutler DJ, Zwick ME, Kugathasan S. Okou DT, et al. Among authors: mulle jg. J Pediatr Gastroenterol Nutr. 2014 May;58(5):561-8. doi: 10.1097/MPG.0000000000000302. J Pediatr Gastroenterol Nutr. 2014. PMID: 24792626 Free PMC article.
Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects.
Ramachandran D, Zeng Z, Locke AE, Mulle JG, Bean LJ, Rosser TC, Dooley KJ, Cua CL, Capone GT, Reeves RH, Maslen CL, Cutler DJ, Feingold E, Sherman SL, Zwick ME. Ramachandran D, et al. Among authors: mulle jg. G3 (Bethesda). 2015 Jul 20;5(10):1961-71. doi: 10.1534/g3.115.019943. G3 (Bethesda). 2015. PMID: 26194203 Free PMC article.
Novel features of 3q29 deletion syndrome: Results from the 3q29 registry.
Glassford MR, Rosenfeld JA, Freedman AA, Zwick ME, Mulle JG; Unique Rare Chromosome Disorder Support Group. Glassford MR, et al. Among authors: mulle jg. Am J Med Genet A. 2016 Apr;170A(4):999-1006. doi: 10.1002/ajmg.a.37537. Epub 2016 Jan 6. Am J Med Genet A. 2016. PMID: 26738761 Free PMC article.
Gastrointestinal Health in Classic Galactosemia.
Shaw KA, Mulle JG, Epstein MP, Fridovich-Keil JL. Shaw KA, et al. Among authors: mulle jg. JIMD Rep. 2017;33:27-32. doi: 10.1007/8904_2016_575. Epub 2016 Jul 1. JIMD Rep. 2017. PMID: 27363831 Free PMC article.
Dysbiosis, inflammation, and response to treatment: a longitudinal study of pediatric subjects with newly diagnosed inflammatory bowel disease.
Shaw KA, Bertha M, Hofmekler T, Chopra P, Vatanen T, Srivatsa A, Prince J, Kumar A, Sauer C, Zwick ME, Satten GA, Kostic AD, Mulle JG, Xavier RJ, Kugathasan S. Shaw KA, et al. Among authors: mulle jg. Genome Med. 2016 Jul 13;8(1):75. doi: 10.1186/s13073-016-0331-y. Genome Med. 2016. PMID: 27412252 Free PMC article.
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