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

Year Number of Results
1984 1
1992 2
1993 2
1994 1
1995 5
1996 2
1997 1
1998 3
1999 1
2000 10
2001 6
2002 8
2003 6
2004 8
2005 8
2006 7
2007 3
2008 9
2009 9
2010 10
2011 11
2012 6
2013 17
2014 11
2015 10
2016 9
2017 7
2018 8
2019 8
2020 5
2021 3
Text availability
Article attribute
Article type
Publication date

Search Results

168 results
Results by year
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Page 1
Bisphosphonate therapy for osteogenesis imperfecta.
Dwan K, Phillipi CA, Steiner RD, Basel D. Dwan K, et al. Among authors: steiner rd. Cochrane Database Syst Rev. 2016 Oct 19;10(10):CD005088. doi: 10.1002/14651858.CD005088.pub4. Cochrane Database Syst Rev. 2016. PMID: 27760454 Free PMC article. Review.
Sitosterolemia.
Myrie SB, Steiner RD, Mymin D. Myrie SB, et al. Among authors: steiner rd. 2013 Apr 4 [updated 2020 Jul 16]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. 2013 Apr 4 [updated 2020 Jul 16]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. PMID: 23556150 Free Books & Documents. Review.
COL1A1/2 Osteogenesis Imperfecta.
Steiner RD, Basel D. Steiner RD, et al. 2005 Jan 28 [updated 2021 May 6]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. 2005 Jan 28 [updated 2021 May 6]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. PMID: 20301472 Free Books & Documents. Review.
Inborn Errors of Metabolism (Metabolic Disorders).
Rice GM, Steiner RD. Rice GM, et al. Among authors: steiner rd. Pediatr Rev. 2016 Jan;37(1):3-15; quiz 16-7, 47. doi: 10.1542/pir.2014-0122. Pediatr Rev. 2016. PMID: 26729777
Pompe disease diagnosis and management guideline.
Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, Crowley JF, Downs S, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS, Nicolino M, O'Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ, Watson MS. Kishnani PS, et al. Among authors: steiner rd. Genet Med. 2006 May;8(5):267-88. doi: 10.1097/01.gim.0000218152.87434.f3. Genet Med. 2006. PMID: 16702877 Free PMC article. No abstract available.
Clinical course of sly syndrome (mucopolysaccharidosis type VII).
Montaño AM, Lock-Hock N, Steiner RD, Graham BH, Szlago M, Greenstein R, Pineda M, Gonzalez-Meneses A, Çoker M, Bartholomew D, Sands MS, Wang R, Giugliani R, Macaya A, Pastores G, Ketko AK, Ezgü F, Tanaka A, Arash L, Beck M, Falk RE, Bhattacharya K, Franco J, White KK, Mitchell GA, Cimbalistiene L, Holtz M, Sly WS. Montaño AM, et al. Among authors: steiner rd. J Med Genet. 2016 Jun;53(6):403-18. doi: 10.1136/jmedgenet-2015-103322. Epub 2016 Feb 23. J Med Genet. 2016. PMID: 26908836 Free PMC article.
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
Martin EMMA, Enriquez A, Sparrow DB, Humphreys DT, McInerney-Leo AM, Leo PJ, Duncan EL, Iyer KR, Greasby JA, Ip E, Giannoulatou E, Sheng D, Wohler E, Dimartino C, Amiel J, Capri Y, Lehalle D, Mory A, Wilnai Y, Lebenthal Y, Gharavi AG, Krzemień GG, Miklaszewska M, Steiner RD, Raggio C, Blank R, Baris Feldman H, Milo Rasouly H, Sobreira NLM, Jobling R, Gordon CT, Giampietro PF, Dunwoodie SL, Chapman G. Martin EMMA, et al. Among authors: steiner rd. Hum Mol Genet. 2020 Dec 4;29(22):3662-3678. doi: 10.1093/hmg/ddaa258. Hum Mol Genet. 2020. PMID: 33276377
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.
Rivera-Muñoz EA, Milko LV, Harrison SM, Azzariti DR, Kurtz CL, Lee K, Mester JL, Weaver MA, Currey E, Craigen W, Eng C, Funke B, Hegde M, Hershberger RE, Mao R, Steiner RD, Vincent LM, Martin CL, Plon SE, Ramos E, Rehm HL, Watson M, Berg JS. Rivera-Muñoz EA, et al. Among authors: steiner rd. Hum Mutat. 2018 Nov;39(11):1614-1622. doi: 10.1002/humu.23645. Hum Mutat. 2018. PMID: 30311389 Free PMC article.
168 results
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