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

Year Number of Results
1947 1
1948 1
1949 1
1952 1
1954 1
1957 3
1958 2
1960 2
1961 2
1962 3
1963 4
1964 1
1965 4
1966 6
1967 8
1968 4
1969 7
1970 6
1971 14
1972 10
1973 5
1974 16
1975 99
1976 120
1977 122
1978 107
1979 104
1980 132
1981 143
1982 125
1983 156
1984 199
1985 233
1986 212
1987 248
1988 255
1989 260
1990 292
1991 311
1992 349
1993 388
1994 398
1995 423
1996 473
1997 496
1998 529
1999 570
2000 573
2001 582
2002 629
2003 615
2004 662
2005 748
2006 764
2007 829
2008 890
2009 888
2010 1004
2011 1062
2012 1096
2013 1262
2014 1228
2015 1191
2016 1212
2017 1188
2018 1195
2019 1231
2020 1448
2021 1431
2022 1322
2023 1131
2024 574

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28,251 results

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Quoted phrase not found in phrase index: "Brachydactyly-mesomelia-intellectual disability-heart defects syndrome"
Page 1
Histopathology of nonalcoholic fatty liver disease/nonalcoholic steatohepatitis.
Takahashi Y, Fukusato T. Takahashi Y, et al. World J Gastroenterol. 2014 Nov 14;20(42):15539-48. doi: 10.3748/wjg.v20.i42.15539. World J Gastroenterol. 2014. PMID: 25400438 Free PMC article. Review.
Nonalcoholic fatty liver disease (NAFLD), a hepatic manifestation of metabolic syndrome, is the most common chronic liver disease, and the prevalence is rapidly increasing worldwide. ...Steatosis, lobular inflammation, and hepatocellular ballooning are all necessary compon …
Nonalcoholic fatty liver disease (NAFLD), a hepatic manifestation of metabolic syndrome, is the most common chronic liver disease, an …
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.
Following the initial description of HINTS to diagnose acute vestibular syndrome (AVS) in 2009, there has been significant interest in the systematic evaluation of HINTs to diagnose stroke and other less common central causes of AVS. ...Twenty-five papers provide a summary …
Following the initial description of HINTS to diagnose acute vestibular syndrome (AVS) in 2009, there has been significant interest i …
Holt-Oram syndrome.
Smith AT, Sack GH Jr, Taylor GJ. Smith AT, et al. J Pediatr. 1979 Oct;95(4):538-43. doi: 10.1016/s0022-3476(79)80758-1. J Pediatr. 1979. PMID: 480027
The autosomal dominant association of upper extremity skeletal defects with congenital heart disease is known as the Holt-Oram syndrome. We reviewed our experience with 39 affected patients of whom 15 were considered new mutations. Wide varieties of skeletal defe …
The autosomal dominant association of upper extremity skeletal defects with congenital heart disease is known as the Holt-Oram syn …
Molecular Mechanisms Involved in Craniosynostosis.
Yapijakis C, Pachis N, Sotiriadou T, Vaila C, Michopoulou V, Vassiliou S. Yapijakis C, et al. In Vivo. 2023 Jan-Feb;37(1):36-46. doi: 10.21873/invivo.13052. In Vivo. 2023. PMID: 36593018 Free PMC article. Review.
Craniosynostosis refers to the early fusion of one or many cranial sutures, causing craniofacial abnormalities observed in 1:2,500 births worldwide. In most cases (85%), craniosynostosis is presented as sporadic anomaly (non-syndromic craniosynostosis), while …
Craniosynostosis refers to the early fusion of one or many cranial sutures, causing craniofacial abnormalities observed in 1:2 …
Uncombable hair syndrome and beyond.
Alsabbagh MM. Alsabbagh MM. Acta Dermatovenerol Alp Pannonica Adriat. 2022 Jun;31(2):49-64. Acta Dermatovenerol Alp Pannonica Adriat. 2022. PMID: 35751533 Free article.
Uncombable hair syndrome presents with frizzy hair in early childhood. Isolated hair manifestations are usually observed; however, systemic involvement of the nervous system, eyes, and ears have also been reported. ...This article presents the clinical picture of un …
Uncombable hair syndrome presents with frizzy hair in early childhood. Isolated hair manifestations are usually observed; howe …
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. ...The aetiology is a defect in TTC37, a TPR containing prote …
Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or …
The cone dysfunction syndromes.
Aboshiha J, Dubis AM, Carroll J, Hardcastle AJ, Michaelides M. Aboshiha J, et al. Br J Ophthalmol. 2016 Jan;100(1):115-21. doi: 10.1136/bjophthalmol-2014-306505. Epub 2015 Mar 13. Br J Ophthalmol. 2016. PMID: 25770143 Free PMC article. Review.
The cone dysfunction syndromes are a heterogeneous group of inherited, predominantly stationary retinal disorders characterised by reduced central vision and varying degrees of colour vision abnormalities, nystagmus and photophobia. ...The latest data regarding the …
The cone dysfunction syndromes are a heterogeneous group of inherited, predominantly stationary retinal disorders characterised by re …
Etiologies of uterine malformations.
Jacquinet A, Millar D, Lehman A. Jacquinet A, et al. Am J Med Genet A. 2016 Aug;170(8):2141-72. doi: 10.1002/ajmg.a.37775. Epub 2016 Jun 8. Am J Med Genet A. 2016. PMID: 27273803 Review.
Although most occurrences ostensibly seem sporadic, familial recurrences have been observed, which strongly implicate genetic factors. Through the study of animal models, human syndromes, and structural chromosomal variation, several candidate genes have been propos …
Although most occurrences ostensibly seem sporadic, familial recurrences have been observed, which strongly implicate genetic factors …
Genetic generalized epilepsies.
Gallentine WB, Mikati MA. Gallentine WB, et al. J Clin Neurophysiol. 2012 Oct;29(5):408-19. doi: 10.1097/WNP.0b013e31826bd92a. J Clin Neurophysiol. 2012. PMID: 23027098 Review.
It has been replaced by the term genetic epilepsy, only to be used to describe epilepsy in which the etiology has a known or presumed genetic defect in which seizures are the core symptom of the disorder. The purpose of this article was to review the electroclinical spectr …
It has been replaced by the term genetic epilepsy, only to be used to describe epilepsy in which the etiology has a known or presumed geneti …
Genetics of patella hypoplasia/agenesis.
Vanlerberghe C, Boutry N, Petit F. Vanlerberghe C, et al. Clin Genet. 2018 Jul;94(1):43-53. doi: 10.1111/cge.13209. Epub 2018 Apr 11. Clin Genet. 2018. PMID: 29322497 Review.
When absent or hypoplastic, recurrent knee subluxations, patellofemoral dysfunction and early gonarthrosis may occur. Patella hypoplasia/agenesis may be isolated or observed in syndromic conditions, either as the main clinical feature (Nail-patella syndrome, …
When absent or hypoplastic, recurrent knee subluxations, patellofemoral dysfunction and early gonarthrosis may occur. Patella hypoplasia/age …
28,251 results
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