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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2012 | 1 |
2013 | 1 |
2014 | 3 |
2015 | 2 |
2024 | 0 |
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7 results
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Page 1
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
Nat Commun. 2015 Sep 3;6:8038. doi: 10.1038/ncomms9038.
Nat Commun. 2015.
PMID: 26333769
Free PMC article.
Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders.
Leo VC, Morgan NV, Bem D, Jones ML, Lowe GC, Lordkipanidzé M, Drake S, Simpson MA, Gissen P, Mumford A, Watson SP, Daly ME; UK GAPP Study Group.
Leo VC, et al.
J Thromb Haemost. 2015 Apr;13(4):643-50. doi: 10.1111/jth.12836. Epub 2015 Jan 27.
J Thromb Haemost. 2015.
PMID: 25556537
Free PMC article.
Item in Clipboard
Perinatal systemic gene delivery using adeno-associated viral vectors.
Karda R, Buckley SM, Mattar CN, Ng J, Massaro G, Hughes MP, Kurian MA, Baruteau J, Gissen P, Chan JK, Bacchelli C, Waddington SN, Rahim AA.
Karda R, et al.
Front Mol Neurosci. 2014 Nov 14;7:89. doi: 10.3389/fnmol.2014.00089. eCollection 2014.
Front Mol Neurosci. 2014.
PMID: 25452713
Free PMC article.
Review.
Item in Clipboard
Characterization of multiple platelet activation pathways in patients with bleeding as a high-throughput screening option: use of 96-well Optimul assay.
Lordkipanidzé M, Lowe GC, Kirkby NS, Chan MV, Lundberg MH, Morgan NV, Bem D, Nisar SP, Leo VC, Jones ML, Mundell SJ, Daly ME, Mumford AD, Warner TD, Watson SP; UK Genotyping and Phenotyping of Platelets Study Group.
Lordkipanidzé M, et al.
Blood. 2014 Feb 20;123(8):e11-22. doi: 10.1182/blood-2013-08-520387. Epub 2014 Jan 9.
Blood. 2014.
PMID: 24408324
Free PMC article.
Item in Clipboard
Arthrogryposis, renal dysfunction, and cholestasis syndrome caused by VIPAR mutation.
Ackermann O, Gonzales E, Keller M, Guettier C, Gissen P, Jacquemin E.
Ackermann O, et al.
J Pediatr Gastroenterol Nutr. 2014 Mar;58(3):e29-32. doi: 10.1097/MPG.0b013e318298108f.
J Pediatr Gastroenterol Nutr. 2014.
PMID: 23636179
No abstract available.
Item in Clipboard
Alagille syndrome and other hereditary causes of cholestasis.
Hartley JL, Gissen P, Kelly DA.
Hartley JL, et al.
Clin Liver Dis. 2013 May;17(2):279-300. doi: 10.1016/j.cld.2012.12.004.
Clin Liver Dis. 2013.
PMID: 23540503
Review.
Item in Clipboard
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.
Smith H, Galmes R, Gogolina E, Straatman-Iwanowska A, Reay K, Banushi B, Bruce CK, Cullinane AR, Romero R, Chang R, Ackermann O, Baumann C, Cangul H, Cakmak Celik F, Aygun C, Coward R, Dionisi-Vici C, Sibbles B, Inward C, Kim CA, Klumperman J, Knisely AS, Watson SP, Gissen P.
Smith H, et al.
Hum Mutat. 2012 Dec;33(12):1656-64. doi: 10.1002/humu.22155. Epub 2012 Aug 6.
Hum Mutat. 2012.
PMID: 22753090
Free PMC article.
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