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Issue Date
Title
Author(s)
2017
NAD deficiency, congenital malformations, and niacin supplementation
Shi, H.
;
Enriquez, A.
;
Rapadas, M.
;
Martin, E.
;
Wang, R.
;
Moreau, J.
;
Lim, C.
;
Szot, J.
;
Ip, E.
;
Hughes, J.
;
Sugimoto, K.
;
Humphreys, D.
;
McInerney-Leo, A.
;
Leo, P.
;
Maghzal, G.
;
Halliday, J.
;
Smith, J.
;
Colley, A.
;
Mark, P.
;
Collins, F.
;
et al.
2011
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia
Corbett, M.
;
Schwake, M.
;
Bahlo, M.
;
Dibbens, L.
;
Lin, M.
;
Gandolfo, L.
;
Vears, D.
;
O'Sullivan, J.
;
Robertson, T.
;
Bayly, M.
;
Gardner, A.
;
Vlaar, A.
;
Korenke, G.
;
Bloem, B.
;
de Coo, I.
;
Verhagen, J.
;
Lehesjoki, A.
;
Gecz, J.
;
Berkovic, S.
2010
A focal Eeilepsy and intellectual disability syndrome is due to a mutation in TBC1D24
Bahlo, M.
;
Jolly, L.
;
Afawi, Z.
;
Gardner, A.
;
Oliver, K.
;
Tan, S.
;
Coffey, A.
;
Mulley, J.
;
Dibbens, L.
;
Simri, W.
;
Shalata, A.
;
Kivity, S.
;
Jackson, G.
;
Berkovic, S.
;
Gecz, J.
;
Corbett, M.
2012
BRCA1/2 mutations, fertility and the grandmother effect
Da Silva, J.
2011
Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing
Fasquelle, L.
;
Scott, H.
;
Lenoir, M.
;
Wang, J.
;
Rebillard, G.
;
Gaboyard, S.
;
Venteo, S.
;
Francois, F.
;
Masset-Bonnefont, A.
;
Antonarakis, S.
;
Neidhart, E.
;
Chabbert, C.
;
Puel, J.
;
Guipponi, M.
;
Delprat, B.
2013
Mutations in DEPDC5 cause familial focal epilepsy with variable foci
Dibbens, L.
;
de Vries, B.
;
Donatello, S.
;
Heron, S.
;
Hodgson, B.
;
Chintawar, S.
;
Crompton, D.
;
Hughes, J.
;
Bellows, S.
;
Klein, K.
;
Callenbach, P.
;
Corbett, M.
;
Gardner, A.
;
Kivity, S.
;
Iona, X.
;
Regan, B.
;
Weller, C.
;
Crimmins, D.
;
O'Brien, T.
;
Guerrero-Lopez, R.
;
et al.
2011
For all my family's sake, I should go and find out: An Australian report on genetic counseling and testing uptake in individuals at high risk of breast and/or ovarian cancer
Wakefield, C.
;
Ratnayake, P.
;
Meiser, B.
;
Suthers, G.
;
Price, M.
;
Duffy, J.
;
Tucker, K.
2012
Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial
Falchook, G.
;
Long, G.
;
Kurzrock, R.
;
Kim, K.
;
Arkenau, T.
;
Brown, M.
;
Hamid, O.
;
Infante, J.
;
Millward, M.
;
Pavlick, A.
;
O'Day, S.
;
Blackman, S.
;
Curtis, C.
;
Lebowitz, P.
;
Ma, B.
;
Ouellet, D.
;
Kefford, R.
2012
Identification of a novel pneumococcal vaccine antigen preferentially expressed during meningitis in mice
Mahdi, L.
;
Wang, H.
;
Van der Hoek, M.
;
Paton, J.
;
Ogunniyi, A.
2011
Investigating the potential role of genetic and epigenetic variation of DNA methyltransferase genes in hyperplastic polyposis syndrome
Drini, M.
;
Wong, N.
;
Scott, H.
;
Craig, J.
;
Dobrovic, A.
;
Hewitt, C.
;
Dow, C.
;
Young, J.
;
Jenkins, M.
;
Saffery, R.
;
Macrae, F.
;
Oshima, R.
Discover
Author
3
Corbett, M.
3
Dibbens, L.
3
Gardner, A.
2
Bahlo, M.
2
Berkovic, S.
2
et al.
2
Gecz, J.
2
Hughes, J.
2
Kivity, S.
2
Scott, H.
.
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Subject
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Male
5
Animals
5
Mice
4
Adult
4
Middle Aged
3
Pedigree
2
Aged
2
Aged, 80 and over
2
Amino Acid Sequence
2
Cells, Cultured
.
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