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

Year Number of Results
1988 1
1989 2
1990 2
1991 1
1993 1
1995 1
1998 3
1999 1
2003 1
2007 1
2009 1
2012 1
2019 1
2022 1
2023 1
2024 0

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19 results

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Page 1
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch'ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM Jr, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID. Kaur M, et al. Among authors: arn ph. Am J Med Genet A. 2023 Aug;191(8):2113-2131. doi: 10.1002/ajmg.a.63247. Epub 2023 Jun 28. Am J Med Genet A. 2023. PMID: 37377026
Galactosemia.
Arn PH. Arn PH. Curr Treat Options Neurol. 2003 Jul;5(4):343-345. doi: 10.1007/s11940-003-0040-x. Curr Treat Options Neurol. 2003. PMID: 12791201
Newborn screening: current status.
Arn PH. Arn PH. Health Aff (Millwood). 2007 Mar-Apr;26(2):559-66. doi: 10.1377/hlthaff.26.2.559. Health Aff (Millwood). 2007. PMID: 17339686 Review.
TANGO2 Mutation: A Genetic Cause of Multifocal Combined Dystonia.
Frey J, Burns MR, Chiu SY, Wagle Shukla A, El Kouzi A, Jackson J, Arn PH, Malaty IA. Frey J, et al. Among authors: arn ph. Mov Disord Clin Pract. 2022 Jan 4;9(3):380-382. doi: 10.1002/mdc3.13400. eCollection 2022 Apr. Mov Disord Clin Pract. 2022. PMID: 35402644 Free PMC article. No abstract available.
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.
Doyle AJ, Doyle JJ, Bessling SL, Maragh S, Lindsay ME, Schepers D, Gillis E, Mortier G, Homfray T, Sauls K, Norris RA, Huso ND, Leahy D, Mohr DW, Caulfield MJ, Scott AF, Destrée A, Hennekam RC, Arn PH, Curry CJ, Van Laer L, McCallion AS, Loeys BL, Dietz HC. Doyle AJ, et al. Among authors: arn ph. Nat Genet. 2012 Nov;44(11):1249-54. doi: 10.1038/ng.2421. Epub 2012 Sep 30. Nat Genet. 2012. PMID: 23023332 Free PMC article.
19 results