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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1982 1
1990 2
1991 1
1992 2
1993 3
1994 1
1995 1
1996 2
1997 2
1998 4
1999 1
2000 1
2001 5
2003 2
2004 4
2005 2
2006 3
2007 1
2008 1
2009 3
2011 1
2012 1
2016 1
2017 1
2018 3
2021 2
2023 1
2024 1

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51 results

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Page 1
Angelman syndrome.
Williams CA, Zori RT, Hendrickson J, Stalker H, Marum T, Whidden E, Driscoll DJ. Williams CA, et al. Among authors: zori rt. Curr Probl Pediatr. 1995 Aug;25(7):216-31. doi: 10.1016/s0045-9380(06)80036-8. Curr Probl Pediatr. 1995. PMID: 8521718 Review. No abstract available.
Angelman syndrome: clinical profile.
Zori RT, Hendrickson J, Woolven S, Whidden EM, Gray B, Williams CA. Zori RT, et al. J Child Neurol. 1992 Jul;7(3):270-80. doi: 10.1177/088307389200700307. J Child Neurol. 1992. PMID: 1634750 Review.
Phenocopy versus genocopy.
Zori RT, Williams CA. Zori RT, et al. Am J Med Genet. 1991 Aug 1;40(2):248-9. doi: 10.1002/ajmg.1320400224. Am J Med Genet. 1991. PMID: 1897581 No abstract available.
Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency.
Diaz GA, Schulze A, McNutt MC, Leão-Teles E, Merritt JL 2nd, Enns GM, Batzios S, Bannick A, Zori RT, Sloan LS, Potts SL, Bubb G, Quinn AG. Diaz GA, et al. Among authors: zori rt. J Inherit Metab Dis. 2021 Jul;44(4):847-856. doi: 10.1002/jimd.12343. Epub 2021 Jan 26. J Inherit Metab Dis. 2021. PMID: 33325055 Free PMC article. Clinical Trial.
A pathogenic role for germline PTEN variants which accumulate into the nucleus.
Mingo J, Rodríguez-Escudero I, Luna S, Fernández-Acero T, Amo L, Jonasson AR, Zori RT, López JI, Molina M, Cid VJ, Pulido R. Mingo J, et al. Among authors: zori rt. Eur J Hum Genet. 2018 Aug;26(8):1180-1187. doi: 10.1038/s41431-018-0155-x. Epub 2018 Apr 30. Eur J Hum Genet. 2018. PMID: 29706633 Free PMC article.
TFAP2A mutations result in branchio-oculo-facial syndrome.
Milunsky JM, Maher TA, Zhao G, Roberts AE, Stalker HJ, Zori RT, Burch MN, Clemens M, Mulliken JB, Smith R, Lin AE. Milunsky JM, et al. Among authors: zori rt. Am J Hum Genet. 2008 May;82(5):1171-7. doi: 10.1016/j.ajhg.2008.03.005. Am J Hum Genet. 2008. PMID: 18423521 Free PMC article.
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira… See abstract for full author list ➔ Redin C, et al. Among authors: zori rt. Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14. Nat Genet. 2017. PMID: 27841880 Free PMC article.
51 results