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

Year Number of Results
1975 3
1976 2
1977 8
1978 2
1979 4
1980 2
1981 5
1982 2
1983 2
1984 6
1985 7
1986 5
1987 8
1988 6
1989 14
1990 13
1991 8
1992 19
1993 21
1994 17
1995 30
1996 28
1997 32
1998 18
1999 29
2000 29
2001 30
2002 29
2003 36
2004 31
2005 32
2006 25
2007 36
2008 47
2009 45
2010 43
2011 59
2012 53
2013 56
2014 54
2015 62
2016 50
2017 49
2018 56
2019 49
2020 53
2021 64
2022 45
2023 30
2024 16

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1,231 results

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Quoted phrase not found in phrase index: "Short stature-craniofacial anomalies-genital hypoplasia syndrome"
Page 1
The trisomy 18 syndrome.
Cereda A, Carey JC. Cereda A, et al. Orphanet J Rare Dis. 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. Orphanet J Rare Dis. 2012. PMID: 23088440 Free PMC article. Review.
The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. ...The recognizable syndrome pattern consists of major and minor anom …
The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chro …
Side effects of corticosteroid therapy.
Buchman AL. Buchman AL. J Clin Gastroenterol. 2001 Oct;33(4):289-94. doi: 10.1097/00004836-200110000-00006. J Clin Gastroenterol. 2001. PMID: 11588541 Review.
The side effects from corticosteroids emulate from exogenous hypercortisolism, which is similar to the clinical syndrome of Cushing's disease. STUDY: PubMed search for years 1966-2000, author's personal manuscript/abstract files, and citations of known references. CONCLUSI …
The side effects from corticosteroids emulate from exogenous hypercortisolism, which is similar to the clinical syndrome of Cushing's …
Reappraising the spectrum of AKI and hepatorenal syndrome in patients with cirrhosis.
Velez JCQ, Therapondos G, Juncos LA. Velez JCQ, et al. Nat Rev Nephrol. 2020 Mar;16(3):137-155. doi: 10.1038/s41581-019-0218-4. Epub 2019 Nov 13. Nat Rev Nephrol. 2020. PMID: 31723234 Review.
The occurrence of acute kidney injury (AKI) in patients with end-stage liver disease constitutes one of the most challenging clinical scenarios in in-hospital and critical care medicine. Hepatorenal syndrome type 1 (HRS-1), which is a specific type of AKI that occurs in th …
The occurrence of acute kidney injury (AKI) in patients with end-stage liver disease constitutes one of the most challenging clinical scenar …
Use of HINTS in the acute vestibular syndrome. An Overview.
Kattah JC. Kattah JC. Stroke Vasc Neurol. 2018 Jun 23;3(4):190-196. doi: 10.1136/svn-2018-000160. eCollection 2018 Dec. Stroke Vasc Neurol. 2018. PMID: 30637123 Free PMC article. Review.
Further research will undoubtedly provide specific combination of abnormalities with high degree of lesion localisation and aetiology. In a short time following the original description, neurotologist and neurologists in the evaluation of AVS use the HINTS triad. .. …
Further research will undoubtedly provide specific combination of abnormalities with high degree of lesion localisation and aetiology …
Nonprogressive congenital ataxias.
Bertini E, Zanni G, Boltshauser E. Bertini E, et al. Handb Clin Neurol. 2018;155:91-103. doi: 10.1016/B978-0-444-64189-2.00006-8. Handb Clin Neurol. 2018. PMID: 29891079 Review.
We exclude children with prenatal, perinatal, and postnatal acquired diseases, malformations other than cerebellar hypoplasia, and defined syndromic disorders. Patients with NPCA have a high prevalence of cognitive and language impairments, in addition to increased …
We exclude children with prenatal, perinatal, and postnatal acquired diseases, malformations other than cerebellar hypoplasia, and de …
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
Very high incidences of additional disease phenotypes that may severely affect prognosis and survival include endocrine abnormalities, dilated cardiomyopathy, pulmonary fibrosis and restrictive lung disease, and progressive hepatic and renal failure. Other clinical …
Very high incidences of additional disease phenotypes that may severely affect prognosis and survival include endocrine abnormalit …
Syndromic diarrhea/Tricho-hepato-enteric syndrome.
Fabre A, Martinez-Vinson C, Goulet O, Badens C. Fabre A, et al. Orphanet J Rare Dis. 2013 Jan 9;8:5. doi: 10.1186/1750-1172-8-5. Orphanet J Rare Dis. 2013. PMID: 23302111 Free PMC article. Review.
Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex. ...Even with optimal management, most of the children seem to experi …
Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or …
Deaths: Leading Causes for 2020.
Curtin SC, Tejada-Vera B, Bastian BA. Curtin SC, et al. Natl Vital Stat Rep. 2023 Dec;72(13):1-115. Natl Vital Stat Rep. 2023. PMID: 38085308 Free article.
The 10 leading causes of death in 2020 were, in rank order: Diseases of heart; Malignant neoplasms; COVID-19; Accidents (unintentional injuries); Cerebrovascular diseases; Chronic lower respiratory diseases; Alzheimer disease; Diabetes mellitus; Influenza and pneumonia; and Nephr …
The 10 leading causes of death in 2020 were, in rank order: Diseases of heart; Malignant neoplasms; COVID-19; Accidents (unintentional injur …
Myoclonic-astatic epilepsy.
Doose H. Doose H. Epilepsy Res Suppl. 1992;6:163-8. Epilepsy Res Suppl. 1992. PMID: 1418479 Review.
The disease is characterized by the following criteria: genetic predisposition (high incidence of seizures and/or genetic EEG patterns in relatives); mostly normal development and no neurological deficits before onset; primarily generalized myoclonic, astatic or myoclonic-astatic …
The disease is characterized by the following criteria: genetic predisposition (high incidence of seizures and/or genetic EEG patterns in re …
Acute kidney injury.
Kellum JA. Kellum JA. Crit Care Med. 2008 Apr;36(4 Suppl):S141-5. doi: 10.1097/CCM.0b013e318168c4a4. Crit Care Med. 2008. PMID: 18382185 Review.
The clinical syndrome known as acute tubular necrosis does not actually manifest the morphologic changes that the name implies. ...From this chaos, two principles emerged: first, the need for a standard definition and, second, the need to classify the severity of the sy …
The clinical syndrome known as acute tubular necrosis does not actually manifest the morphologic changes that the name implies. ...Fr …
1,231 results