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

Year Number of Results
2008 1
2009 1
2010 2
2011 2
2012 8
2013 7
2014 3
2015 2
2016 7
2017 8
2018 8
2020 3
2021 4
2022 2
2023 1
2024 3

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50 results

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Page 1
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Kozycki CT, Kodati S, Huryn L, Wang H, Warner BM, Jani P, Hammoud D, Abu-Asab MS, Jittayasothorn Y, Mattapallil MJ, Tsai WL, Ullah E, Zhou P, Tian X, Soldatos A, Moutsopoulos N, Kao-Hsieh M, Heller T, Cowen EW, Lee CR, Toro C, Kalsi S, Khavandgar Z, Baer A, Beach M, Long Priel D, Nehrebecky M, Rosenzweig S, Romeo T, Deuitch N, Brenchley L, Pelayo E, Zein W, Sen N, Yang AH, Farley G, Sweetser DA, Briere L, Yang J, de Oliveira Poswar F, Schwartz IVD, Silva Alves T, Dusser P, Koné-Paut I, Touitou I, Titah SM, van Hagen PM, van Wijck RTA, van der Spek PJ, Yano H, Benneche A, Apalset EM, Jansson RW, Caspi RR, Kuhns DB, Gadina M, Takada H, Ida H, Nishikomori R, Verrecchia E, Sangiorgi E, Manna R, Brooks BP, Sobrin L, Hufnagel RB, Beck D, Shao F, Ombrello AK, Aksentijevich I, Kastner DL; Undiagnosed Diseases Network. Kozycki CT, et al. Among authors: schwartz ivd. Ann Rheum Dis. 2022 Oct;81(10):1453-1464. doi: 10.1136/annrheumdis-2022-222629. Epub 2022 Jul 22. Ann Rheum Dis. 2022. PMID: 35868845 Free PMC article.
Impact of COVID-19 on academic mothers.
Staniscuaski F, Reichert F, Werneck FP, de Oliveira L, Mello-Carpes PB, Soletti RC, Almeida CI, Zandona E, Ricachenevsky FK, Neumann A, Schwartz IVD, Tamajusuku ASK, Seixas A, Kmetzsch L; Parent in Science Movement. Staniscuaski F, et al. Among authors: schwartz ivd. Science. 2020 May 15;368(6492):724. doi: 10.1126/science.abc2740. Science. 2020. PMID: 32409466 No abstract available.
Elevated holo-transcobalamin in Gaucher disease type II: A case report.
Basgalupp SP, Donis KC, Siebert M, E Vairo FP, Artigalas O, de Camargo Pinto LL, Behringer S, Spiekerkoetter U, Hannibal L, Schwartz IVD. Basgalupp SP, et al. Among authors: schwartz ivd. Am J Med Genet A. 2021 Aug;185(8):2471-2476. doi: 10.1002/ajmg.a.62252. Epub 2021 May 24. Am J Med Genet A. 2021. PMID: 34031990 Review.
Determination of amylose/amylopectin ratio of starches.
Nalin T, Sperb-Ludwig F, Venema K, Derks TG, Schwartz IV. Nalin T, et al. Among authors: schwartz iv. J Inherit Metab Dis. 2015 Sep;38(5):985-6. doi: 10.1007/s10545-015-9850-8. Epub 2015 Apr 29. J Inherit Metab Dis. 2015. PMID: 25921820 No abstract available.
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.
Yıldız Y, Kuseyri Hübschmann O, Akgöz Karaosmanoğlu A, Manti F, Karaca M, Schwartz IVD, Pons R, López-Laso E, Palacios NAJ, Porta F, Kavecan I, Balcı MC, Dy-Hollins ME, Wong SN, Oppebøen M, Medeiros LS, de Paula LCP, García-Cazorla A, Hoffmann GF, Jeltsch K, Leuzzi V, Gökçay G, Hübschmann D, Harting I, Özön ZA, Sivri S, Opladen T. Yıldız Y, et al. Among authors: schwartz ivd. J Inherit Metab Dis. 2024 May;47(3):431-446. doi: 10.1002/jimd.12658. Epub 2023 Jul 24. J Inherit Metab Dis. 2024. PMID: 37452721
Time to fight the pandemic setbacks for caregiver academics.
Staniscuaski F, Reichert F, Zandonà E, Soletti RC, Infanger C, Mello-Carpes PB, Da Costa Ludwig ZM, Kmetzsch L, Ricachenevsky FK, Werneck FP, Wiggers GA, Schwartz IVD, Lima EF, Tamajusuku ASK, Neumann A, Seixas A, Brandao A, de Oliveira L. Staniscuaski F, et al. Among authors: schwartz ivd. Nat Hum Behav. 2021 Oct;5(10):1262. doi: 10.1038/s41562-021-01209-2. Nat Hum Behav. 2021. PMID: 34635826 No abstract available.
Serum Markers of Neurodegeneration in Maple Syrup Urine Disease.
Scaini G, Tonon T, de Souza CFM, Schuk PF, Ferreira GC, Neto JS, Amorin T, Schwartz IVD, Streck EL. Scaini G, et al. Among authors: schwartz ivd. Mol Neurobiol. 2017 Sep;54(7):5709-5719. doi: 10.1007/s12035-016-0116-8. Epub 2016 Sep 22. Mol Neurobiol. 2017. PMID: 27660262
Development and validation of Gaucher disease type 1 (GD1)-specific patient-reported outcome measures (PROMs) for clinical monitoring and for clinical trials.
Elstein D, Belmatoug N, Deegan P, Göker-Alpan Ö, Hughes DA, Schwartz IVD, Weinreb N, Bonner N, Panter C, Fountain D, Lenny A, Longworth L, Miller R, Shah K, Schenk J, Sen R, Zimran A. Elstein D, et al. Among authors: schwartz ivd. Orphanet J Rare Dis. 2022 Jan 6;17(1):9. doi: 10.1186/s13023-021-02163-y. Orphanet J Rare Dis. 2022. PMID: 34991656 Free PMC article.
Breastfeeding in Gaucher disease: is enzyme replacement therapy safe?
Dornelles AD, de Oliveira Netto CB, Vairo F, de Mari JF, Tirelli KM, Schwartz IV. Dornelles AD, et al. Among authors: schwartz iv. Clin Ther. 2014 Jun 1;36(6):990-1. doi: 10.1016/j.clinthera.2014.03.017. Epub 2014 Apr 24. Clin Ther. 2014. PMID: 24768190 No abstract available.
50 results