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Results 1-10 of 48 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
2016
TBC1D24 genotype-phenotype correlation
Balestrini, S.
;
Milh, M.
;
Castiglioni, C.
;
Lüthy, K.
;
Finelli, M.
;
Verstreken, P.
;
Cardon, A.
;
Stražišar, B.
;
Holder, J.
;
Lesca, G.
;
Mancardi, M.
;
Poulat, A.
;
Repetto, G.
;
Banka, S.
;
Bilo, L.
;
Birkeland, L.
;
Bosch, F.
;
Brockmann, K.
;
Cross, J.
;
Doummar, D.
;
et al.
2017
Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling
Hughes, J.
;
Dawson, R.
;
Tea, M.
;
McAninch, D.
;
Piltz, S.
;
Jackson, D.
;
Stewart, L.
;
Ricos, M.
;
Dibbens, L.
;
Harvey, N.
;
Thomas, P.
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.
2019
Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females
Jackson, M.R.
;
Loring, K.E.
;
Homan, C.C.
;
Thai, H.N.
;
Määttänen, L.
;
Arvio, M.
;
Jarvela, I.
;
Shaw, M.
;
Gardner, A.
;
Gecz, J.
;
Shoubridge, C.
2013
A novel prion disease associated with diarrhea and autonomic neuropathy
Mead, S.
;
Gandhi, S.
;
Beck, J.
;
Caine, D.
;
Gallujipali, D.
;
Carswell, C.
;
Hyare, H.
;
Joiner, S.
;
Ayling, H.
;
Lashley, T.
;
Linehan, J.M.
;
Al-Doujaily, H.
;
Sharps, B.
;
Revesz, T.
;
Sandberg, M.K.
;
Reilly, M.M.
;
Koltzenburg, M.
;
Forbes, A.
;
Rudge, P.
;
Brandner, S.
;
et al.
2013
Migalastat HCl reduces globotriaosylsphingosine (Lyso-Gb3) in fabry transgenic mice and in the plasma of fabry patients
Young-Gqamana, B.
;
Brignol, N.
;
Chang, H.
;
Khanna, R.
;
Soska, R.
;
Fuller, M.
;
Sitaraman, S.
;
Germain, D.
;
Giugliani, R.
;
Hughes, D.
;
Mehta, A.
;
Nicholls, K.
;
Boudes, P.
;
Lockhart, D.
;
Valenzano, K.
;
Benjamin, E.
;
Schiffmann, R.
2016
Quantitative non-invasive cell characterisation and discrimination based on multispectral autofluorescence features
Gosnell, M.
;
Anwer, A.
;
Mahbub, S.
;
Menon Perinchery, S.
;
Inglis, D.
;
Adhikary, P.
;
Jazayeri, J.
;
Cahill, M.
;
Saad, S.
;
Pollock, C.
;
Sutton-Mcdowall, M.
;
Thompson, J.
;
Goldys, E.
2015
p84 forms a negative regulatory complex with p110γ to control PI3Kγ signalling during cell migration
Turvey, M.
;
Klingler-Hoffmann, M.
;
Hoffmann, P.
;
McColl, S.
2013
The genomic landscape of hypodiploid acute lymphoblastic leukemia
To, L.
2016
The First Histidine Triad Motif of PhtD Is Critical for Zinc Homeostasis in Streptococcus pneumoniae
Eijkelkamp, B.
;
Pederick, V.
;
Plumptre, C.
;
Harvey, R.
;
Hughes, C.
;
Paton, J.
;
McDevitt, C.
;
Camilli, A.
Discover
Author
11
Paton, J.
10
et al.
10
Gecz, J.
7
Ogunniyi, A.
5
Gardner, A.
5
Jolly, L.
4
Corbett, M.
4
Harvey, R.
4
Hughes, J.
4
Shoubridge, C.
.
next >
Subject
48
Animals
36
Humans
28
Female
26
Male
11
Molecular Sequence Data
10
Intellectual Disability
10
Pedigree
10
Streptococcus pneumoniae
9
Mice, Knockout
8
Amino Acid Sequence
.
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Date issued
1
2019
3
2018
4
2017
3
2016
4
2015
4
2014
11
2013
6
2012
6
2011
6
2010
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