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Results 21-30 of 45 (Search time: 0.005 seconds).
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Issue Date
Title
Author(s)
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.
2003
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation
Burdon, K.
;
McKay, J.
;
Sale, M.
;
Russell-Eggitt, I.
;
Mackey, D.
;
Wirth, G.
;
Elder, J.
;
Nicoll, A.
;
Clarke, M.
;
FitzGerald, L.
;
Stankovich, J.
;
Shaw, M.
;
Sharma, S.
;
Gajovic, S.
;
Gruss, P.
;
Ross, S.
;
Thomas, P.
;
Voss, A.
;
Thomas, T.
;
Gecz, J.
;
et al.
2009
Csf2 Null Mutation Alters Placental Gene Expression and Trophoblast Glycogen Cell and Giant Cell Abundance in Mice
Sferruzzi-Perri, A.
;
Macpherson, A.
;
Roberts, C.
;
Robertson, S.
2002
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome
Lower, K.
;
Turner, G.
;
Kerr, B.
;
Mathews, K.
;
Shaw, M.
;
Gedeon, A.
;
Schelley, S.
;
Hoyme, H.
;
White, S.
;
Delatycki, M.
;
Lampe, A.
;
Clayton-Smith, J.
;
Stewart, H.
;
van Ravenswaay, C.
;
de Vries, B.
;
Cox, B.
;
Grompe, M.
;
Ross, S.
;
Thomas, P.
;
Mulley, J.
;
et al.
2002
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
Stromme, P.
;
Mangelsdorf, M.
;
Shaw, M.
;
Lower, K.
;
Lewis, S.
;
Bruyere, H.
;
Lutcherath, V.
;
Gedeon, A.
;
Wallace, R.
;
Scheffer, I.
;
Turner, G.
;
Partington, M.
;
Frints, S.
;
Fryns, J.
;
Sutherland, G.
;
Mulley, J.
;
Gecz, J.
2012
Adipokines and adipocyte function in clock mutant mice that retain melatonin rhythmicity
Kennaway, D.
;
Owens, J.
;
Voultsios, A.
;
Wight, N.
2009
Grape seed polyphenols and curcumin reduce genomic instability events in a transgenic mouse model for Alzheimer's disease
Thomas, P.
;
Wang, Y.
;
Zhong, J.
;
Kosaraju, S.
;
Callaghan, N.
;
Zhou, X.
;
Fenech, M.
2010
Disruption at the PTCHD1 locus on Xp22.11 in Autism Spectrum Disorder and intellectual disability
Gecz, J.
2011
Pneumolysin with low hemolytic activity confers an early growth advantage to Streptococcus pneumoniae in the blood
Harvey, R.
;
Ogunniyi, A.
;
Chen, A.
;
Paton, J.
;
Camilli, A.
Discover
Author
11
Gecz, J.
9
et al.
6
Robertson, S.
5
Jolly, L.
5
Paton, J.
5
Shaw, M.
4
Gardner, A.
4
Mulley, J.
4
Ogunniyi, A.
4
Shoubridge, C.
.
next >
Subject
31
Male
30
Humans
14
Intellectual Disability
12
Pedigree
11
Molecular Sequence Data
10
Amino Acid Sequence
9
Mice, Knockout
6
Bacterial Proteins
6
Brain
6
Mice, Inbred C57BL
.
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