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2018 3
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26 results
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Ezetimibe Added to Statin Therapy after Acute Coronary Syndromes.
Cannon CP, Blazing MA, Giugliano RP, McCagg A, White JA, Theroux P, Darius H, Lewis BS, Ophuis TO, Jukema JW, De Ferrari GM, Ruzyllo W, De Lucca P, Im K, Bohula EA, Reist C, Wiviott SD, Tershakovec AM, Musliner TA, Braunwald E, Califf RM; IMPROVE-IT Investigators. Cannon CP, et al. N Engl J Med. 2015 Jun 18;372(25):2387-97. doi: 10.1056/NEJMoa1410489. Epub 2015 Jun 3. N Engl J Med. 2015. PMID: 26039521 Free article. Clinical Trial.
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV. Kanca O, et al. Am J Hum Genet. 2019 Aug 1;105(2):413-424. doi: 10.1016/j.ajhg.2019.06.014. Epub 2019 Jul 18. Am J Hum Genet. 2019. PMID: 31327508 Free PMC article.
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.
Rossetti LZ, Glinton K, Yuan B, Liu P, Pillai N, Mizerik E, Magoulas P, Rosenfeld JA, Karaviti L, Sutton VR, Lalani SR, Scott DA. Rossetti LZ, et al. Am J Med Genet A. 2019 Jul;179(7):1376-1382. doi: 10.1002/ajmg.a.61182. Epub 2019 May 8. Am J Med Genet A. 2019. PMID: 31069960 Free PMC article. Review.
These cases provide additional evidence that haploinsufficiency of MYRF causes a genetic syndrome whose cardinal features include CHD, urogenital anomalies, congenital diaphragmatic hernia, and pulmonary hypoplasia. ...
These cases provide additional evidence that haploinsufficiency of MYRF causes a genetic syndrome whose cardinal features include CHD …
Phenotype and genotype in Nicolaides-Baraitser syndrome.
Sousa SB, Hennekam RC; Nicolaides-Baraitser Syndrome International Consortium. Sousa SB, et al. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):302-14. doi: 10.1002/ajmg.c.31409. Epub 2014 Aug 28. Am J Med Genet C Semin Med Genet. 2014. PMID: 25169058 Review.
The cardinal features (ID, short stature, microcephaly, typical face, sparse hair, brachydactyly, prominent interphalangeal joints, behavioral problems and seizures), are almost universally present. ...
The cardinal features (ID, short stature, microcephaly, typical face, sparse hair, brachydactyly, prominent interphalangeal joints, b …
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.
Coman D, Vissers LELM, Riley LG, Kwint MP, Hauck R, Koster J, Geuer S, Hopkins S, Hallinan B, Sweetman L, Engelke UFH, Burrow TA, Cardinal J, McGill J, Inwood A, Gurnsey C, Waterham HR, Christodoulou J, Wevers RA, Pitt J. Coman D, et al. Am J Hum Genet. 2018 Jul 5;103(1):125-130. doi: 10.1016/j.ajhg.2018.05.004. Epub 2018 Jun 14. Am J Hum Genet. 2018. PMID: 29909962 Free PMC article.
Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO.
Sewani M, Nugent K, Blackburn PR, Tarnowski JM, Hernandez-Garcia A, Amiel J, Whalen S, Keren B, Courtin T, Rosenfeld JA, Yang Y, Patterson MC, Pichurin P, McLean SD, Scott DA. Sewani M, et al. Am J Med Genet A. 2020 Apr;182(4):652-658. doi: 10.1002/ajmg.a.61466. Epub 2019 Dec 28. Am J Med Genet A. 2020. PMID: 31883306
The cardinal features of this condition include developmental delay, intellectual disability, hypotonia, macrocephaly, structural abnormalities affecting the corpus callosum and/or cerebellum, LVNC, congenital heart defects, and gastrointestinal/feeding issues. ...
The cardinal features of this condition include developmental delay, intellectual disability, hypotonia, macrocephaly, structural abn …
Are rating scales for bipolar disorders fit for purpose?
Scott J, Murray G. Scott J, et al. Br J Psychiatry. 2018 Nov;213(5):627-629. doi: 10.1192/bjp.2018.189. Br J Psychiatry. 2018. PMID: 30339112
The DSM-5 definition of bipolar disorder elevates increased activity or energy as a cardinal symptom (alongside mood changes) for mania and hypomania ('hypo/mania'). ...Here, we highlight that the 'gold-standard' symptom rating scales for hypo/mania and depression were dev …
The DSM-5 definition of bipolar disorder elevates increased activity or energy as a cardinal symptom (alongside mood changes) for man …
ASHP Guidelines on Preventing Diversion of Controlled Substances.
Brummond PW, Chen DF, Churchill WW, Clark JS, Dillon KR, Dumitru D, Eschenbacher L, Fera T, Fortier CR, Gullickson KK, Jurakovich K, Kent S, Keonavong J, Marchese C, Meyer T, Murdaugh LB, Ogden RK Jr, O'Neal BC, Rough S, Saenz R, Smith JS. Brummond PW, et al. Am J Health Syst Pharm. 2017 Mar 1;74(5):325-348. doi: 10.2146/ajhp160919. Epub 2017 Jan 4. Am J Health Syst Pharm. 2017. PMID: 28052859 Review. No abstract available.
Malrotation in infancy and childhood.
Arthur F, Carachi R. Arthur F, et al. Scott Med J. 2016 May;61(2):69-73. doi: 10.1177/0036933016649870. Epub 2016 Aug 30. Scott Med J. 2016. PMID: 27578853
BACKGROUND AND AIMS: The cardinal features of bilious vomiting and abdominal distension assist in the diagnosis of malrotation and volvulus, an often fatal condition in the neonate. ...
BACKGROUND AND AIMS: The cardinal features of bilious vomiting and abdominal distension assist in the diagnosis of malrotation and vo …
Survival following allogeneic transplant in patients with myelofibrosis.
Gowin K, Ballen K, Ahn KW, Hu ZH, Ali H, Arcasoy MO, Devlin R, Coakley M, Gerds AT, Green M, Gupta V, Hobbs G, Jain T, Kandarpa M, Komrokji R, Kuykendall AT, Luber K, Masarova L, Michaelis LC, Patches S, Pariser AC, Rampal R, Stein B, Talpaz M, Verstovsek S, Wadleigh M, Agrawal V, Aljurf M, Angel Diaz M, Avalos BR, Bacher U, Bashey A, Beitinjaneh AM, Cerny J, Chhabra S, Copelan E, Cutler CS, DeFilipp Z, Gadalla SM, Ganguly S, Grunwald MR, Hashmi SK, Kharfan-Dabaja MA, Kindwall-Keller T, Kröger N, Lazarus HM, Liesveld JL, Litzow MR, Marks DI, Nathan S, Nishihori T, Olsson RF, Pawarode A, Rowe JM, Savani BN, Savoie ML, Seo S, Solh M, Tamari R, Verdonck LF, Yared JA, Alyea E, Popat U, Sobecks R, Scott BL, Nakamura R, Mesa R, Saber W. Gowin K, et al. Blood Adv. 2020 May 12;4(9):1965-1973. doi: 10.1182/bloodadvances.2019001084. Blood Adv. 2020. PMID: 32384540 Free PMC article.
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