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

Year Number of Results
1947 1
1961 1
1968 1
1969 1
1971 3
1972 3
1973 2
1974 3
1975 20
1976 36
1977 31
1978 20
1979 22
1980 24
1981 38
1982 32
1983 38
1984 51
1985 57
1986 68
1987 59
1988 74
1989 92
1990 97
1991 96
1992 155
1993 135
1994 181
1995 183
1996 186
1997 218
1998 227
1999 239
2000 228
2001 289
2002 273
2003 288
2004 333
2005 386
2006 403
2007 478
2008 490
2009 571
2010 597
2011 582
2012 616
2013 721
2014 727
2015 765
2016 739
2017 772
2018 831
2019 912
2020 1141
2021 1133
2022 995
2023 897
2024 353

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15,723 results

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Quoted phrase not found in phrase index: "Pancytopenia-developmental delay syndrome"
Page 1
Gastroparesis.
Camilleri M, Chedid V, Ford AC, Haruma K, Horowitz M, Jones KL, Low PA, Park SY, Parkman HP, Stanghellini V. Camilleri M, et al. Nat Rev Dis Primers. 2018 Nov 1;4(1):41. doi: 10.1038/s41572-018-0038-z. Nat Rev Dis Primers. 2018. PMID: 30385743 Free article. Review.
Gastroparesis is a disorder characterized by delayed gastric emptying of solid food in the absence of a mechanical obstruction of the stomach, resulting in the cardinal symptoms of early satiety, postprandial fullness, nausea, vomiting, belching and bloating. ...Thus, a co …
Gastroparesis is a disorder characterized by delayed gastric emptying of solid food in the absence of a mechanical obstruction of the …
Acute Aortic Syndrome Revisited: JACC State-of-the-Art Review.
Vilacosta I, San Román JA, di Bartolomeo R, Eagle K, Estrera AL, Ferrera C, Kaji S, Nienaber CA, Riambau V, Schäfers HJ, Serrano FJ, Song JK, Maroto L. Vilacosta I, et al. J Am Coll Cardiol. 2021 Nov 23;78(21):2106-2125. doi: 10.1016/j.jacc.2021.09.022. J Am Coll Cardiol. 2021. PMID: 34794692 Free article. Review.
The purpose of this paper is to describe all available evidence on the distinctive features of a group of 4 life-threatening acute aortic pathologies gathered under the name of acute aortic syndrome (AAS). The epidemiology, diagnostic strategy, and management of these pati …
The purpose of this paper is to describe all available evidence on the distinctive features of a group of 4 life-threatening acute aortic pa …
Diagnosis and Management of Acute Aortic Syndromes: Dissection, Penetrating Aortic Ulcer, and Intramural Hematoma.
Sorber R, Hicks CW. Sorber R, et al. Curr Cardiol Rep. 2022 Mar;24(3):209-216. doi: 10.1007/s11886-022-01642-3. Epub 2022 Jan 14. Curr Cardiol Rep. 2022. PMID: 35029783 Free PMC article. Review.
The purpose of this review is to summarize current management strategies for acute aortic syndromes. RECENT FINDINGS: All acute aortic syndromes have potential for high morbidity and mortality and must be quickly identified and managed with the appropriate algorithm …
The purpose of this review is to summarize current management strategies for acute aortic syndromes. RECENT FINDINGS: All acute aorti …
Congenital hyperinsulinism disorders: Genetic and clinical characteristics.
Rosenfeld E, Ganguly A, De Leon DD. Rosenfeld E, et al. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):682-692. doi: 10.1002/ajmg.c.31737. Epub 2019 Aug 14. Am J Med Genet C Semin Med Genet. 2019. PMID: 31414570 Free PMC article. Review.
Congenital hyperinsulinism (HI) is the most frequent cause of persistent hypoglycemia in infants and children. Delays in diagnosis and initiation of appropriate treatment contribute to a high risk of neurocognitive impairment. ...There are at least nine known monogenic for …
Congenital hyperinsulinism (HI) is the most frequent cause of persistent hypoglycemia in infants and children. Delays in diagnosis an …
Diagnosis and management of acute aortic syndromes in the emergency department.
Morello F, Santoro M, Fargion AT, Grifoni S, Nazerian P. Morello F, et al. Intern Emerg Med. 2021 Jan;16(1):171-181. doi: 10.1007/s11739-020-02354-8. Epub 2020 May 1. Intern Emerg Med. 2021. PMID: 32358680 Free article. Review.
Acute aortic syndromes (AASs) are deadly cardiovascular emergencies involving the thoracic aorta. ...In the Emergency Department (ED), most patients with potential signs/symptoms of AASs are finally found affected by other alternative diagnoses. Hence, misdiagnosis and …
Acute aortic syndromes (AASs) are deadly cardiovascular emergencies involving the thoracic aorta. ...In the Emergency Department (ED) …
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Aref-Eshghi E, Kerkhof J, Pedro VP; Groupe DI France; Barat-Houari M, Ruiz-Pallares N, Andrau JC, Lacombe D, Van-Gils J, Fergelot P, Dubourg C, Cormier-Daire V, Rondeau S, Lecoquierre F, Saugier-Veber P, Nicolas G, Lesca G, Chatron N, Sanlaville D, Vitobello A, Faivre L, Thauvin-Robinet C, Laumonnier F, Raynaud M, Alders M, Mannens M, Henneman P, Hennekam RC, Velasco G, Francastel C, Ulveling D, Ciolfi A, Pizzi S, Tartaglia M, Heide S, Héron D, Mignot C, Keren B, Whalen S, Afenjar A, Bienvenu T, Campeau PM, Rousseau J, Levy MA, Brick L, Kozenko M, Balci TB, Siu VM, Stuart A, Kadour M, Masters J, Takano K, Kleefstra T, de Leeuw N, Field M, Shaw M, Gecz J, Ainsworth PJ, Lin H, Rodenhiser DI, Friez MJ, Tedder M, Lee JA, DuPont BR, Stevenson RE, Skinner SA, Schwartz CE, Genevieve D, Sadikovic B. Aref-Eshghi E, et al. Am J Hum Genet. 2020 Mar 5;106(3):356-370. doi: 10.1016/j.ajhg.2020.01.019. Epub 2020 Feb 27. Am J Hum Genet. 2020. PMID: 32109418 Free PMC article.
An expanding number of genetic syndromes have been shown to have unique genomic DNA methylation patterns (called "episignatures"). ...We present here an approach to episignature mapping in 42 genetic syndromes, which has allowed the identification of 34 robust disea …
An expanding number of genetic syndromes have been shown to have unique genomic DNA methylation patterns (called "episignatures"). .. …
Dystonia-plus syndromes.
Asmus F, Gasser T. Asmus F, et al. Eur J Neurol. 2010 Jul;17 Suppl 1:37-45. doi: 10.1111/j.1468-1331.2010.03049.x. Eur J Neurol. 2010. PMID: 20590807 Review.
Dystonia-plus syndromes represent a heterogeneous group of diseases, where dystonia is accompanied by other neurological features and gene mutations can be detected frequently. ...The combination of dystonia and parkinsonism can only be rarely observed in non-degenerative …
Dystonia-plus syndromes represent a heterogeneous group of diseases, where dystonia is accompanied by other neurological features and …
Non-progressive congenital ataxias.
Steinlin M. Steinlin M. Brain Dev. 1998 Jun;20(4):199-208. doi: 10.1016/s0387-7604(98)00019-9. Brain Dev. 1998. PMID: 9661964 Review.
Congenital ataxias (CA) are rare, predominantly non-progressive syndromes characterized by marked hypotonia, developmental delay followed by the appearance of ataxia. ...Ataxic syndromes are less frequent, but more distinctive. There are syndromes (e.g …
Congenital ataxias (CA) are rare, predominantly non-progressive syndromes characterized by marked hypotonia, developmental delay …
Alstrom syndrome.
Marshall JD, Beck S, Maffei P, Naggert JK. Marshall JD, et al. Eur J Hum Genet. 2007 Dec;15(12):1193-202. doi: 10.1038/sj.ejhg.5201933. Epub 2007 Oct 17. Eur J Hum Genet. 2007. PMID: 17940554
Alstrom Syndrome is an autosomal recessive, single gene disorder caused by mutations in ALMS1 (Chr 2p13), a novel gene of currently unknown molecular function. ...Most patients demonstrate normal intelligence, although some reports indicate delayed psychomotor and i …
Alstrom Syndrome is an autosomal recessive, single gene disorder caused by mutations in ALMS1 (Chr 2p13), a novel gene of currently u …
Imaging for acute aortic syndromes.
Carroll BJ, Schermerhorn ML, Manning WJ. Carroll BJ, et al. Heart. 2020 Feb;106(3):182-189. doi: 10.1136/heartjnl-2019-314897. Epub 2019 Dec 10. Heart. 2020. PMID: 31822571 Review.
Acute aortic syndromes (AAS) represent a spectrum of disorders with a common theme of disruption in aortic integrity. ...Additionally, imaging is vital for planning of interventions in both acute and delayed intervention. Endovascular treatment options are used with …
Acute aortic syndromes (AAS) represent a spectrum of disorders with a common theme of disruption in aortic integrity. ...Additionally …
15,723 results
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