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Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
Am J Hum Genet. 2010 Nov 12;87(5):618-30. doi: 10.1016/j.ajhg.2010.10.004. Epub 2010 Nov 4.
Am J Hum Genet. 2010.
PMID: 21055719
Free PMC article.
Cleft palate in a multigenerational family with a microdeletion of 20p12.3 involving BMP2.
Williams ES, Uhas KA, Bunke BP, Garber KB, Martin CL.
Williams ES, et al. Among authors: uhas ka.
Am J Med Genet A. 2012 Oct;158A(10):2616-20. doi: 10.1002/ajmg.a.35594. Epub 2012 Sep 10.
Am J Med Genet A. 2012.
PMID: 22965927
Free PMC article.
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Chiari malformation, cervical spine anomalies, and neurologic deficits in velocardiofacial syndrome.
Hultman CS, Riski JE, Cohen SR, Burstein FD, Boydston WR, Hudgins RJ, Grattan-Smith D, Uhas K, Simms C.
Hultman CS, et al. Among authors: uhas k.
Plast Reconstr Surg. 2000 Jul;106(1):16-24. doi: 10.1097/00006534-200007000-00004.
Plast Reconstr Surg. 2000.
PMID: 10883607
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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KB…
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Koczkowska M, et al. Among authors: uhas ka.
Hum Mutat. 2020 Jan;41(1):299-315. doi: 10.1002/humu.23929. Epub 2019 Oct 26.
Hum Mutat. 2020.
PMID: 31595648
Free PMC article.
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Bone marrow transplantation for infantile ceramidase deficiency (Farber disease).
Yeager AM, Uhas KA, Coles CD, Davis PC, Krause WL, Moser HW.
Yeager AM, et al. Among authors: uhas ka.
Bone Marrow Transplant. 2000 Aug;26(3):357-63. doi: 10.1038/sj.bmt.1702489.
Bone Marrow Transplant. 2000.
PMID: 10967581
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