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

Year Number of Results
1980 1
1993 2
2002 3
2003 5
2004 3
2005 6
2006 3
2007 2
2008 1
2009 4
2010 12
2011 13
2012 5
2013 9
2014 10
2015 11
2016 14
2017 16
2018 16
2019 16
2020 19
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2022 10
2023 16
2024 5

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190 results

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Page 1
MERRF.
Velez-Bartolomei F, Lee C, Enns G. Velez-Bartolomei F, et al. Among authors: lee c. 2003 Jun 3 [updated 2021 Jan 7]. 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. 2003 Jun 3 [updated 2021 Jan 7]. 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: 20301693 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: MERRF (myoclonic epilepsy with ragged red fibers) is a multisystem disorder characterized by myoclonus (often the first symptom) followed by generalized epilepsy, ataxia, weakness, exercise intolerance, and dementia. ...Pigmentary retinopathy, opt …
CLINICAL CHARACTERISTICS: MERRF (myoclonic epilepsy with ragged red fibers) is a multisystem disorder characterized by myoclonus (oft …
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.
Piotrowski A, Xie J, Liu YF, Poplawski AB, Gomes AR, Madanecki P, Fu C, Crowley MR, Crossman DK, Armstrong L, Babovic-Vuksanovic D, Bergner A, Blakeley JO, Blumenthal AL, Daniels MS, Feit H, Gardner K, Hurst S, Kobelka C, Lee C, Nagy R, Rauen KA, Slopis JM, Suwannarat P, Westman JA, Zanko A, Korf BR, Messiaen LM. Piotrowski A, et al. Among authors: lee c. Nat Genet. 2014 Feb;46(2):182-7. doi: 10.1038/ng.2855. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362817 Free PMC article.
Carnitine-Acylcarnitine Translocase Deficiency.
Morales Corado JA, Lee CU, Enns GM. Morales Corado JA, et al. Among authors: lee cu. 2022 Jul 21. 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. 2022 Jul 21. 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: 35862567 Free Books & Documents. Review.
Cardiac arrhythmias, cardiomyopathy, rhabdomyolysis, and acute renal impairment should be treated per standard of care, typically in the intensive care unit. Consideration should be given for triheptanoin treatment in those with cardiogenic shock. ...Measurement of …
Cardiac arrhythmias, cardiomyopathy, rhabdomyolysis, and acute renal impairment should be treated per standard of care, typically in …
Subclinical Cerebrovascular Disease: Epidemiology and Treatment.
de Havenon A, Meyer C, McNally JS, Alexander M, Chung L. de Havenon A, et al. Among authors: chung l. Curr Atheroscler Rep. 2019 Jul 27;21(10):39. doi: 10.1007/s11883-019-0799-1. Curr Atheroscler Rep. 2019. PMID: 31350593 Free PMC article. Review.
Despite the link between sCVD and many vascular risk factors, such as hypertension or hyperlipidemia, the optimal medical treatment of sCVD remains uncertain. Given the clinical equipoise about the risk versus benefit of aggressive medical management for sCVD, clinical …
Despite the link between sCVD and many vascular risk factors, such as hypertension or hyperlipidemia, the optimal medical treatment of sCVD …
Intensive vs Standard Treatment of Hyperglycemia and Functional Outcome in Patients With Acute Ischemic Stroke: The SHINE Randomized Clinical Trial.
Johnston KC, Bruno A, Pauls Q, Hall CE, Barrett KM, Barsan W, Fansler A, Van de Bruinhorst K, Janis S, Durkalski-Mauldin VL; Neurological Emergencies Treatment Trials Network and the SHINE Trial Investigators. Johnston KC, et al. JAMA. 2019 Jul 23;322(4):326-335. doi: 10.1001/jama.2019.9346. JAMA. 2019. PMID: 31334795 Free PMC article. Clinical Trial.
DESIGN, SETTING, AND PARTICIPANTS: The Stroke Hyperglycemia Insulin Network Effort (SHINE) randomized clinical trial included adult patients with hyperglycemia (glucose concentration of >110 mg/dL if had diabetes or 150 mg/dL if did not have diabetes) and acute ischemic …
DESIGN, SETTING, AND PARTICIPANTS: The Stroke Hyperglycemia Insulin Network Effort (SHINE) randomized clinical trial included adult p …
Apixaban to Prevent Recurrence After Cryptogenic Stroke in Patients With Atrial Cardiopathy: The ARCADIA Randomized Clinical Trial.
Kamel H, Longstreth WT Jr, Tirschwell DL, Kronmal RA, Marshall RS, Broderick JP, Aragón García R, Plummer P, Sabagha N, Pauls Q, Cassarly C, Dillon CR, Di Tullio MR, Hod EA, Soliman EZ, Gladstone DJ, Healey JS, Sharma M, Chaturvedi S, Janis LS, Krishnaiah B, Nahab F, Kasner SE, Stanton RJ, Kleindorfer DO, Starr M, Winder TR, Clark WM, Miller BR, Elkind MSV; ARCADIA Investigators. Kamel H, et al. JAMA. 2024 Feb 20;331(7):573-581. doi: 10.1001/jama.2023.27188. JAMA. 2024. PMID: 38324415
IMPORTANCE: Atrial cardiopathy is associated with stroke in the absence of clinically apparent atrial fibrillation. It is unknown whether anticoagulation, which has proven benefit in atrial fibrillation, prevents stroke in patients with atrial cardiopathy and no atrial fib …
IMPORTANCE: Atrial cardiopathy is associated with stroke in the absence of clinically apparent atrial fibrillation. It is unknown whe …
Clinical implications of underactive bladder.
Ko KJ, Lee CU, Lee KS. Ko KJ, et al. Among authors: lee cu. Investig Clin Urol. 2017 Dec;58(Suppl 2):S75-S81. doi: 10.4111/icu.2017.58.S2.S75. Epub 2017 Nov 22. Investig Clin Urol. 2017. PMID: 29279879 Free PMC article. Review.
In these combined cases, the treatment results may be affected by UAB component. This review focuses on the clinical implications of UAB in patients with common urologic conditions, including bladder outlet obstruction, overactive bladder syndrome and stress urinary incont …
In these combined cases, the treatment results may be affected by UAB component. This review focuses on the clinical implications of …
Molecular and clinical spectra of FBXL4 deficiency.
El-Hattab AW, Dai H, Almannai M, Wang J, Faqeih EA, Al Asmari A, Saleh MAM, Elamin MAO, Alfadhel M, Alkuraya FS, Hashem M, Aldosary MS, Almass R, Almutairi FB, Alsagob M, Al-Owain M, Al-Sharfa S, Al-Hassnan ZN, Rahbeeni Z, Al-Muhaizea MA, Makhseed N, Foskett GK, Stevenson DA, Gomez-Ospina N, Lee C, Boles RG, Schrier Vergano SA, Wortmann SB, Sperl W, Opladen T, Hoffmann GF, Hempel M, Prokisch H, Alhaddad B, Mayr JA, Chan W, Kaya N, Wong LC. El-Hattab AW, et al. Among authors: lee c. Hum Mutat. 2017 Dec;38(12):1649-1659. doi: 10.1002/humu.23341. Epub 2017 Oct 6. Hum Mutat. 2017. PMID: 28940506 Review.
In this report, we present 37 additional affected individuals and 11 previously unreported pathogenic variants. We summarize the clinical features of all 87 individuals with FBXL4-related mtDNA maintenance defect, review FBXL4 structure and function, map the 47 pathogenic …
In this report, we present 37 additional affected individuals and 11 previously unreported pathogenic variants. We summarize the clinical …
How far has robot-assisted partial nephrectomy reached?
Lee CU, Alabbasi M, Chung JH, Kang M, Seo SI. Lee CU, et al. Investig Clin Urol. 2023 Sep;64(5):435-447. doi: 10.4111/icu.20230121. Investig Clin Urol. 2023. PMID: 37668199 Free PMC article. Review.
This is not limited to only SRM but also applies to large and complex renal masses and other challenging situations. RAPN showed good oncological and functional outcomes for clinical T2 renal tumors, complex renal masses (PADUA score 10, RENAL score 10), hilar renal tumors …
This is not limited to only SRM but also applies to large and complex renal masses and other challenging situations. RAPN showed good oncolo …
190 results