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

Year Number of Results
1978 1
1981 1
1982 2
1984 1
1986 2
1987 1
1988 4
1989 6
1990 6
1991 1
1992 7
1993 10
1994 2
1995 5
1996 11
1997 9
1998 14
1999 12
2000 9
2001 16
2002 7
2003 20
2004 21
2005 27
2006 33
2007 34
2008 27
2009 28
2010 31
2011 32
2012 39
2013 39
2014 35
2015 42
2016 30
2017 37
2018 25
2019 43
2020 45
2021 32
2022 23
2023 2
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700 results
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Page 1
CHARGE syndrome: a review.
Hsu P, Ma A, Wilson M, Williams G, Curotta J, Munns CF, Mehr S. Hsu P, et al. J Paediatr Child Health. 2014 Jul;50(7):504-11. doi: 10.1111/jpc.12497. Epub 2014 Feb 19. J Paediatr Child Health. 2014. PMID: 24548020 Review.
CHARGE syndrome is a complex genetic syndrome, owing to the wide range of tissues/systems affected by mutations in the CHD7 gene. In this review, we discuss the diagnosis, clinical features and management of CHARGE syndrome....
CHARGE syndrome is a complex genetic syndrome, owing to the wide range of tissues/systems affected by mutations in the …
Oesophageal atresia.
van Lennep M, Singendonk MMJ, Dall'Oglio L, Gottrand F, Krishnan U, Terheggen-Lagro SWJ, Omari TI, Benninga MA, van Wijk MP. van Lennep M, et al. Nat Rev Dis Primers. 2019 Apr 18;5(1):26. doi: 10.1038/s41572-019-0077-0. Nat Rev Dis Primers. 2019. PMID: 31000707 Review.
EA commonly occurs with a tracheo-oesophageal fistula (TEF). Associated birth defects or anomalies, such as VACTERL association, trisomy 18 or 21 and CHARGE syndrome, occur in the majority of patients born with EA. ...
EA commonly occurs with a tracheo-oesophageal fistula (TEF). Associated birth defects or anomalies, such as VACTERL association, tris …
VACTERL/VATER Association.
Solomon BD. Solomon BD. Orphanet J Rare Dis. 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. Orphanet J Rare Dis. 2011. PMID: 21846383 Free PMC article. Review.
VACTERL/VATER association is typically defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. ...This differential diagnosis …
VACTERL/VATER association is typically defined by the presence of at least three of the following congenital malformations: vertebral …
New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries.
van Ravenswaaij-Arts C, Martin DM. van Ravenswaaij-Arts C, et al. Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):397-406. doi: 10.1002/ajmg.c.31592. Epub 2017 Nov 24. Am J Med Genet C Semin Med Genet. 2017. PMID: 29171162 Free PMC article. Review.
CHARGE syndrome is a multiple congenital anomaly condition caused, in a majority of individuals, by loss of function pathogenic variants in the gene CHD7. ...We hope the excitement around innovative research and development in CHARGE syndrome will enco …
CHARGE syndrome is a multiple congenital anomaly condition caused, in a majority of individuals, by loss of function pathogeni …
[SMA: from gene discovery to gene therapy].
Barkats M. Barkats M. Med Sci (Paris). 2020 Feb;36(2):137-140. doi: 10.1051/medsci/2020010. Epub 2020 Mar 4. Med Sci (Paris). 2020. PMID: 32129749 Free article. Review. French.
Recently, a startup led by the Dr Kaspar decided to test this experimental approach in children with SMA type 1. Dr Mendell, in charge of this clinical project, showed a very significant increase of the lifespan and motor function of the patients (until 4 years) after a si …
Recently, a startup led by the Dr Kaspar decided to test this experimental approach in children with SMA type 1. Dr Mendell, in charge …
The enteric nervous system in gastrointestinal disease etiology.
Holland AM, Bon-Frauches AC, Keszthelyi D, Melotte V, Boesmans W. Holland AM, et al. Cell Mol Life Sci. 2021 May;78(10):4713-4733. doi: 10.1007/s00018-021-03812-y. Epub 2021 Mar 26. Cell Mol Life Sci. 2021. PMID: 33770200 Free PMC article. Review.
A highly conserved but convoluted network of neurons and glial cells, the enteric nervous system (ENS), is positioned along the wall of the gut to coordinate digestive processes and gastrointestinal homeostasis. Because ENS components are in charge of the autonomous regula …
A highly conserved but convoluted network of neurons and glial cells, the enteric nervous system (ENS), is positioned along the wall of the …
NAD+ and cardiovascular diseases.
Lin Q, Zuo W, Liu Y, Wu K, Liu Q. Lin Q, et al. Clin Chim Acta. 2021 Apr;515:104-110. doi: 10.1016/j.cca.2021.01.012. Epub 2021 Jan 21. Clin Chim Acta. 2021. PMID: 33485900 Review.
Nicotinamide adenine dinucleotide (NAD) plays pivotal roles in controlling many biochemical processes. 'NAD' refers to the chemical backbone irrespective of charge, whereas 'NAD(+)' and 'NADH' refers to oxidized and reduced forms, respectively. ...As a sensing or consuming …
Nicotinamide adenine dinucleotide (NAD) plays pivotal roles in controlling many biochemical processes. 'NAD' refers to the chemical backbone …
[Role of enamel microabrasion associated with external bleaching in the management of patients with dental fluorosis].
Azzahim L, Chala S, Abdallaoui F. Azzahim L, et al. Pan Afr Med J. 2019 Oct 4;34:72. doi: 10.11604/pamj.2019.34.72.20401. eCollection 2019. Pan Afr Med J. 2019. PMID: 31819788 Free PMC article. Review. French.
Dental fluorosis is a developmental anomaly affecting aesthetic appearance. The association between microabrasion and external bleaching has shown satisfactory outcomes because it improves aesthetic outcome in patients with light dental fluorosis. The purpose of this study …
Dental fluorosis is a developmental anomaly affecting aesthetic appearance. The association between microabrasion and external bleach …
Heart failure disease: An African perspective.
Gtif I, Bouzid F, Charfeddine S, Abid L, Kharrat N. Gtif I, et al. Arch Cardiovasc Dis. 2021 Oct;114(10):680-690. doi: 10.1016/j.acvd.2021.07.001. Epub 2021 Sep 23. Arch Cardiovasc Dis. 2021. PMID: 34563468 Free article. Review.
There is an evident need to establish a large multicentre registry to evaluate the heart failure burden in almost all African countries, and to highlight the major cardiovascular risk factors and co-morbidities. The present review highlights the importance of this syndrome …
There is an evident need to establish a large multicentre registry to evaluate the heart failure burden in almost all African countries, and …
Properties of the glomerular barrier and mechanisms of proteinuria.
Haraldsson B, Nyström J, Deen WM. Haraldsson B, et al. Physiol Rev. 2008 Apr;88(2):451-87. doi: 10.1152/physrev.00055.2006. Physiol Rev. 2008. PMID: 18391170 Free article. Review.
We review the properties of endothelial cells and their surface layer, the GBM, and podocytes, discuss various methods of studying glomerular permeability, and analyze data concerning the restriction of solutes by size, charge, and shape. We also review the physical princi …
We review the properties of endothelial cells and their surface layer, the GBM, and podocytes, discuss various methods of studying glomerula …
700 results