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Results 1-10 of 28 (Search time: 0.004 seconds).
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Issue Date
Title
Author(s)
2001
Mutations at the boundary of the hinge and ligand binding domain of the androgen receptor confer increased transactivation function
Buchanan, G.
;
Yang, M.
;
Harris, J.
;
Nahm, H.
;
Han, G.
;
Moore, N.
;
Bentel, J.
;
Matusik, R.
;
Horsfall, D.
;
Marshall, V.
;
Greenberg, N.
;
Tilley, W.
2004
Effect of β₂‐glycoprotein I null mutation on reproductive outcome and antiphospholipid antibody‐mediated pregnancy pathology in mice
Robertson, S.
;
Roberts, C.
;
van Beijering, E.
;
Pensa, K.
;
Sheng, Y.
;
Shi, T.
;
Krilis, 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
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.
2021
A framework for high-resolution phenotyping of candidate male infertility mutants: from human to mouse
Houston, B.J.
;
Conrad, D.F.
;
O'Bryan, M.K.
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.
2013
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity
Hirata, H.
;
McMichael, G.
;
Haan, E.
;
MacLennan, A.
;
Yap, T.
;
Nguyen, L.
;
Shaw, M.
;
Gecz, J.
2012
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
Huang, L.
;
Jolly, L.
;
Willis-Owen, S.
;
Gardner, A.
;
Sharma, R.
;
Douglas, E.
;
Shoubridge, C.
;
Wieczorek, D.
;
Tzschach, A.
;
Cohen, M.
;
Hackett, A.
;
Field, M.
;
Froyen, G.
;
Hu, H.
;
Haas, S.
;
Ropers, H.
;
Kalscheuer, V.
;
Corbett, M.
;
Gecz, J.
Discover
Author
12
Gecz, J.
9
et al.
5
Gardner, A.
5
Shaw, M.
4
Corbett, M.
4
Jolly, L.
4
Mulley, J.
4
Thomas, P.
3
Haan, E.
3
Hughes, J.
.
next >
Subject
28
Animals
23
Female
13
Intellectual Disability
13
Pedigree
8
Molecular Sequence Data
7
Brain
6
Amino Acid Sequence
5
Genetic Predisposition to Disease
5
Membrane Proteins
5
Mice, Inbred C57BL
.
next >
Date issued
1
2020 - 2021
20
2010 - 2019
6
2000 - 2009
1
1998 - 1999