1. Adelaide Research & Scholarship

Search


Current filters:



Start a new search
Add filters:

Use filters to refine the search results.

 | 
Results 1-10 of 18 (Search time: 0.003 seconds).
Item hits:
PreviewIssue DateTitleAuthor(s)
2019Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesiaGorman, K.M.; Meyer, E.; Grozeva, D.; Spinelli, E.; McTague, A.; Sanchis-Juan, A.; Carss, K.J.; Bryant, E.; Reich, A.; Schneider, A.L.; Pressler, R.M.; Simpson, M.A.; Debelle, G.D.; Wassmer, E.; Morton, J.; Sieciechowicz, D.; Jan-Kamsteeg, E.; Paciorkowski, A.R.; King, M.D.; Cross, J.H.; et al.
2017Epiregulin and EGFR interactions are involved in pain processingMartin, L.J.; Smith, S.B.; Khoutorsky, A.; Magnussen, C.A.; Samoshkin, A.; Sorge, R.E.; Cho, C.; Yosefpour, N.; Sivaselvachandran, S.; Tohyama, S.; Cole, T.; Khuong, T.M.; Mir, E.; Gibson, D.G.; Wieskopf, J.S.; Sotocinal, S.G.; Austin, J.S.; Meloto, C.B.; Gitt, J.H.; Gkogkas, C.; et al.
2019Chromosomal abnormalities and prognosis in NPM1-mutated acute myeloid leukemia: a pooled analysis of individual patient data from nine international cohortsAngenendt, L.; Röllig, C.; Montesinos, P.; Martínez-Cuadrón, D.; Barragan, E.; García, R.; Botella, C.; Martínez, P.; Ravandi, F.; Kadia, T.; Kantarjian, H.M.; Cortes, J.; Juliusson, G.; Lazarevic, V.; Höglund, M.; Lehmann, S.; Recher, C.; Pigneux, A.; Bertoli, S.; Dumas, P.Y.; et al.
2019Genomic subtyping and therapeutic targeting of acute erythroleukemiaIacobucci, I.; Wen, J.; Meggendorfer, M.; Choi, J.K.; Shi, L.; Pounds, S.B.; Carmichael, C.L.; Masih, K.E.; Morris, S.M.; Lindsley, R.C.; Janke, L.J.; Alexander, T.B.; Song, G.; Qu, C.; Li, Y.; Payne-Turner, D.; Tomizawa, D.; Kiyokawa, N.; Valentine, M.; Valentine, V.; et al.
2021Clonal evolution and clinical implications of genetic abnormalities in blastic transformation of chronic myeloid leukaemiaOchi, Y.; Yoshida, K.; Huang, Y.-J.; Kuo, M.-C.; Nannya, Y.; Sasaki, K.; Mitani, K.; Hosoya, N.; Hiramoto, N.; Ishikawa, T.; Branford, S.; Shanmuganathan, N.; Ohyashiki, K.; Takahashi, N.; Takaku, T.; Tsuchiya, S.; Kanemura, N.; Nakamura, N.; Ueda, Y.; Yoshihara, S.; et al.
2016HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing studyFriez, M.; Brooks, S.; Stevenson, R.; Field, M.; Basehore, M.; Adès, L.; Sebold, C.; Mcgee, S.; Saxon, S.; Skinner, C.; Craig, M.; Murray, L.; Simensen, R.; Yap, Y.; Shaw, M.; Gardner, A.; Corbett, M.; Kumar, R.; Bosshard, M.; Van Loon, B.; et al.
2021PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new familiesGuimier, A.; Achleitner, M.T.; Moreau de Bellaing, A.; Edwards, M.; de Pontual, L.; Mittal, K.; Dunn, K.E.; Grove, M.E.; Tysoe, C.J.; Dimartino, C.; Cameron, J.; Kanthi, A.; Shukla, A.; van den Broek, F.; Chatterjee, D.; Alston, C.L.; Knowles, C.V.; Brett, L.; Till, J.A.; Homfray, T.; et al.
2013Identification Of KLHL41 mutations implicates BTB-Kelch-Mediated Ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathyGupta, V.; Ravenscroft, G.; Shaheen, R.; Todd, E.; Swanson, L.; Shiina, M.; Ogata, K.; Hsu, C.; Clarke, N.; Darras, B.; Farrar, M.; Hashem, A.; Manton, N.; Muntoni, F.; North, K.; Sandaradura, S.; Nishino, I.; Hayashi, Y.; Sewry, C.; Thompson, E.; et al.
2020Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancerWong, M.; Mayoh, C.; Lau, L.M.S.; Khuong-Quang, D.-A.; Pinese, M.; Kumar, A.; Barahona, P.; Wilkie, E.E.; Sullivan, P.; Bowen-James, R.; Syed, M.; Martincorena, I.; Abascal, F.; Sherstyuk, A.; Bolanos, N.A.; Baber, J.; Priestley, P.; Dolman, M.E.M.; Fleuren, E.D.G.; Gauthier, M.-E.; et al.
2022Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variantsBournazos, A.M.; Riley, L.G.; Bommireddipalli, S.; Ades, L.; Akesson, L.S.; Al-Shinnag, M.; Alexander, S.I.; Archibald, A.D.; Balasubramaniam, S.; Berman, Y.; Beshay, V.; Boggs, K.; Bojadzieva, J.; Brown, N.J.; Bryen, S.J.; Buckley, M.F.; Chong, B.; Davis, M.R.; Dawes, R.; Delatycki, M.; et al.

Discover