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

Year Number of Results
1993 1
2003 2
2004 2
2006 1
2009 2
2010 2
2011 3
2012 5
2013 5
2014 5
2015 8
2016 5
2017 7
2018 8
2019 14
2020 9
2021 5
2022 3
2023 2
2024 2

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82 results

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Page 1
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J, Goldstein J, Thaxton C, Caleshu C, Corty EW, Crowley SB, Dougherty K, Harrison SM, McGlaughon J, Milko LV, Morales A, Seifert BA, Strande N, Thomson K, Peter van Tintelen J, Wallace K, Walsh R, Wells Q, Whiffin N, Witkowski L, Semsarian C, Ware JS, Hershberger RE, Funke B. Ingles J, et al. Among authors: goldstein j. Circ Genom Precis Med. 2019 Feb;12(2):e002460. doi: 10.1161/CIRCGEN.119.002460. Circ Genom Precis Med. 2019. PMID: 30681346 Free PMC article.
The Reply.
Goldstein JN, Zhang Z, Schwartz JS, Hicks LS. Goldstein JN, et al. Am J Med. 2018 Feb;131(2):e69. doi: 10.1016/j.amjmed.2017.10.022. Am J Med. 2018. PMID: 29362108 No abstract available.
Phosphorylase Kinase Deficiency.
Herbert M, Goldstein JL, Rehder C, Austin S, Kishnani PS, Bali DS. Herbert M, et al. Among authors: goldstein jl. 2011 May 31 [updated 2018 Nov 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2011 May 31 [updated 2018 Nov 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 21634085 Free Books & Documents. Review.
Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Kishnani PS, Goldstein J, Austin SL, Arn P, Bachrach B, Bali DS, Chung WK, El-Gharbawy A, Brown LM, Kahler S, Pendyal S, Ross KM, Tsilianidis L, Weinstein DA, Watson MS; ACMG Work Group on Diagnosis and Management of Glycogen Storage Diseases Type VI and IX. Kishnani PS, et al. Among authors: goldstein j. Genet Med. 2019 Apr;21(4):772-789. doi: 10.1038/s41436-018-0364-2. Epub 2019 Jan 19. Genet Med. 2019. PMID: 30659246 Free article.
Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.
Bali DS, Goldstein JL, Banugaria S, Dai J, Mackey J, Rehder C, Kishnani PS. Bali DS, et al. Among authors: goldstein jl. Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):40-9. doi: 10.1002/ajmg.c.31319. Epub 2012 Jan 17. Am J Med Genet C Semin Med Genet. 2012. PMID: 22252923 Free PMC article.
Vandetanib photoinduced cutaneous toxicities.
Doan HQ, Hu MI, Goldstein J, Piha-Paul SA, Subbiah V, Patel AB. Doan HQ, et al. Among authors: goldstein j. Cutis. 2019 May;103(5):E24-E29. Cutis. 2019. PMID: 31233590 Review.
The History And Future Of Over-The-Counter Insulin.
Goldstein JN, McCrary M. Goldstein JN, et al. Endocr Pract. 2020 Nov;26(11):1391-1392. doi: 10.4158/EP-2020-0462. Endocr Pract. 2020. PMID: 33471671 No abstract available.
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
Goldstein JL, McGlaughon J, Kanavy D, Goomber S, Pan Y, Deml B, Donti T, Kearns L, Seifert BA, Schachter M, Son RG, Thaxton C, Udani R, Bali D, Baudet H, Caggana M, Hung C, Kyriakopoulou L, Rosenblum L, Steiner R, Pinto E Vairo F, Wang Y, Watson M, Fernandez R, Weaver M, Clarke L, Rehder C. Goldstein JL, et al. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107715. doi: 10.1016/j.ymgme.2023.107715. Epub 2023 Oct 26. Mol Genet Metab. 2023. PMID: 37907381
82 results