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

Year Number of Results
1985 2
1986 1
1987 3
1988 2
1990 1
1994 2
1995 2
1996 2
1997 1
1998 2
1999 3
2000 1
2001 2
2002 2
2003 3
2005 3
2006 2
2007 1
2008 3
2009 1
2010 4
2011 3
2012 2
2013 4
2014 10
2015 4
2016 3
2017 6
2018 10
2019 9
2020 12
2021 8
2022 4
2024 3

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109 results

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Page 1
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R. Germain DP, et al. Among authors: dasouki m. N Engl J Med. 2016 Aug 11;375(6):545-55. doi: 10.1056/NEJMoa1510198. N Engl J Med. 2016. PMID: 27509102 Free article. Clinical Trial.
Metabolomics toward personalized medicine.
Jacob M, Lopata AL, Dasouki M, Abdel Rahman AM. Jacob M, et al. Among authors: dasouki m. Mass Spectrom Rev. 2019 May;38(3):221-238. doi: 10.1002/mas.21548. Epub 2017 Oct 26. Mass Spectrom Rev. 2019. PMID: 29073341 Review.
THPO-MPL pathway and bone marrow failure.
Dasouki M, Saadi I, Ahmed SO. Dasouki M, et al. Hematol Oncol Stem Cell Ther. 2015 Mar;8(1):6-9. doi: 10.1016/j.hemonc.2014.11.005. Epub 2014 Nov 29. Hematol Oncol Stem Cell Ther. 2015. PMID: 25482588 Free article.
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.
Meester JAN, Hebert A, Bastiaansen M, Rabaut L, Bastianen J, Boeckx N, Ashcroft K, Atwal PS, Benichou A, Billon C, Blankensteijn JD, Brennan P, Bucks SA, Campbell IM, Conrad S, Curtis SL, Dasouki M, Dent CL, Eden J, Goel H, Hartill V, Houweling AC, Isidor B, Jackson N, Koopman P, Korpioja A, Kraatari-Tiri M, Kuulavainen L, Lee K, Low KJ, Lu AC, McManus ML, Oakley SP, Oliver J, Organ NM, Overwater E, Revencu N, Trainer AH, Trivedi B, Turner CLS, Whittington R, Zankl A, Zentner D, Van Laer L, Verstraeten A, Loeys BL. Meester JAN, et al. Among authors: dasouki m. NPJ Genom Med. 2024 Mar 26;9(1):22. doi: 10.1038/s41525-024-00413-z. NPJ Genom Med. 2024. PMID: 38531898 Free PMC article.
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.
Houdayer C, Phillips AM, Chabbert M, Bourreau J, Maroofian R, Houlden H, Richards K, Saadi NW, Dad'ová E, Van Bogaert P, Rupin M, Keren B, Charles P, Smol T, Riquet A, Pais L, O'Donnell-Luria A, VanNoy GE, Bayat A, Møller RS, Olofsson K, Abou Jamra R, Syrbe S, Dasouki M, Seaver LH, Sullivan JA, Shashi V, Alkuraya FS, Poss AF, Spence JE, Schnur RE, Forster IC, Mckenzie CE, Simons C, Wang M, Snell P, Kothur K, Buckley M, Roscioli T, Elserafy N, Dauriat B, Procaccio V, Henrion D, Lenaers G, Colin E, Verbeek NE, Van Gassen KL, Legendre C, Bonneau D, Reid CA, Howell KB, Ziegler A, Legros C. Houdayer C, et al. Among authors: dasouki m. medRxiv [Preprint]. 2024 Mar 22:2024.03.19.24303984. doi: 10.1101/2024.03.19.24303984. medRxiv. 2024. PMID: 38562733 Free PMC article. Preprint.
Pompe disease: literature review and case series.
Dasouki M, Jawdat O, Almadhoun O, Pasnoor M, McVey AL, Abuzinadah A, Herbelin L, Barohn RJ, Dimachkie MM. Dasouki M, et al. Neurol Clin. 2014 Aug;32(3):751-76, ix. doi: 10.1016/j.ncl.2014.04.010. Neurol Clin. 2014. PMID: 25037089 Free PMC article. Review.
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.
Moreno Traspas R, Teoh TS, Wong PM, Maier M, Chia CY, Lay K, Ali NA, Larson A, Al Mutairi F, Al-Sannaa NA, Faqeih EA, Alfadhel M, Cheema HA, Dupont J, Bézieau S, Isidor B, Low DY, Wang Y, Tan G, Lai PS, Piloquet H, Joubert M, Kayserili H, Kripps KA, Nahas SA, Wartchow EP, Warren M, Bhavani GS, Dasouki M, Sandoval R, Carvalho E, Ramos L, Porta G, Wu B, Lashkari HP, AlSaleem B, BaAbbad RM, Abreu Ferrão AN, Karageorgou V, Ordonez-Herrera N, Khan S, Bauer P, Cogne B, Bertoli-Avella AM, Vincent M, Girisha KM, Reversade B. Moreno Traspas R, et al. Among authors: dasouki m. Nat Genet. 2022 Aug;54(8):1214-1226. doi: 10.1038/s41588-022-01120-0. Epub 2022 Jul 21. Nat Genet. 2022. PMID: 35864190 Free PMC article.
A genomics approach to male infertility.
Alhathal N, Maddirevula S, Coskun S, Alali H, Assoum M, Morris T, Deek HA, Hamed SA, Alsuhaibani S, Mirdawi A, Ewida N, Al-Qahtani M, Ibrahim N, Abdulwahab F, Altaweel W, Dasouki MJ, Assiri A, Qabbaj W, Alkuraya FS. Alhathal N, et al. Among authors: dasouki mj. Genet Med. 2020 Dec;22(12):1967-1975. doi: 10.1038/s41436-020-0916-0. Epub 2020 Jul 28. Genet Med. 2020. PMID: 32719396 Free article.
Molecular classification of blood and bleeding disorder genes.
Baz B, Abouelhoda M, Owaidah T, Dasouki M, Monies D, Al Tassan N. Baz B, et al. Among authors: dasouki m. NPJ Genom Med. 2021 Jul 16;6(1):62. doi: 10.1038/s41525-021-00228-2. NPJ Genom Med. 2021. PMID: 34272389 Free PMC article.
109 results