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

Year Number of Results
1967 1
1970 1
1986 1
1992 1
1996 1
2003 1
2004 1
2007 3
2008 2
2009 1
2010 1
2011 3
2012 3
2013 6
2014 8
2015 8
2016 15
2017 20
2018 15
2019 20
2020 20
2021 5
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123 results
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Page 1
Unusual case of Juvenile Tay-Sachs disease.
Cheema HA, Waheed N, Saeed A. Cheema HA, et al. BMJ Case Rep. 2019 Sep 12;12(9):e230140. doi: 10.1136/bcr-2019-230140. BMJ Case Rep. 2019. PMID: 31519716
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Perenthaler E, Nikoncuk A, Yousefi S, Berdowski WM, Alsagob M, Capo I, van der Linde HC, van den Berg P, Jacobs EH, Putar D, Ghazvini M, Aronica E, van IJcken WFJ, de Valk WG, Medici-van den Herik E, van Slegtenhorst M, Brick L, Kozenko M, Kohler JN, Bernstein JA, Monaghan KG, Begtrup A, Torene R, Al Futaisi A, Al Murshedi F, Mani R, Al Azri F, Kamsteeg EJ, Mojarrad M, Eslahi A, Khazaei Z, Darmiyan FM, Doosti M, Karimiani EG, Vandrovcova J, Zafar F, Rana N, Kandaswamy KK, Hertecant J, Bauer P, AlMuhaizea MA, Salih MA, Aldosary M, Almass R, Al-Quait L, Qubbaj W, Coskun S, Alahmadi KO, Hamad MHA, Alwadaee S, Awartani K, Dababo AM, Almohanna F, Colak D, Dehghani M, Mehrjardi MYV, Gunel M, Ercan-Sencicek AG, Passi GR, Cheema HA, Efthymiou S, Houlden H, Bertoli-Avella AM, Brooks AS, Retterer K, Maroofian R, Kaya N, van Ham TJ, Barakat TS. Perenthaler E, et al. Among authors: cheema ha. Acta Neuropathol. 2020 Mar;139(3):415-442. doi: 10.1007/s00401-019-02109-6. Epub 2019 Dec 9. Acta Neuropathol. 2020. PMID: 31820119 Free PMC article.
Classical-like Ehlers-Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility.
Green C, Ghali N, Akilapa R, Angwin C, Baker D, Bartlett M, Bowen J, Brady AF, Brock J, Chamberlain E, Cheema H, McConnell V, Crookes R, Kazkaz H, Johnson D, Pope FM, Vandersteen A, Sobey G, van Dijk FS. Green C, et al. Among authors: cheema h. Genet Med. 2020 Oct;22(10):1576-1582. doi: 10.1038/s41436-020-0850-1. Epub 2020 Jun 23. Genet Med. 2020. PMID: 32572181
Propofol Infusion and Acute Pancreatitis: A Review.
Asghar MU, Cheema HA, Tanveer K, Leinwand J. Asghar MU, et al. Among authors: cheema ha. Am J Ther. 2020 Jul/Aug;27(4):e371-e374. doi: 10.1097/MJT.0000000000001021. Am J Ther. 2020. PMID: 31283535 Review.
Chanarin-Dorfman Syndrome.
Waheed N, Cheema HA, Suleman H, Mushtaq I, Fayyaz Z. Waheed N, et al. Among authors: cheema ha. J Coll Physicians Surg Pak. 2016 Sep;26(9):787-9. J Coll Physicians Surg Pak. 2016. PMID: 27671187
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