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Results 21-30 of 30 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2001
Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome)
Scheffer, I.
;
Wallace, R.
;
Mulley, J.
;
Berkovic, S.
2001
Fragile and unstable chromosomes in cancer: causes and consequences
Richards, R.
2001
Carbon catabolite repression in Aspergillus nidulans involves deubiquitination
Lockington, R.
;
Kelly, J.
2001
Contribution of residues A54 and L55 of the human insulin-like growth factor-II (IGF-II) A domain to Type 2 IGF receptor binding specificity
Forbes, B.
;
McNeil, K.
;
Scott, C.
;
Surinya, K.
;
Cosgrove, L.
;
Wallace, J.
2001
Variable presentation of X-linked adrenal hypoplasia congenita
Wiltshire, E.
;
Couper, J.
;
Rodda, C.
;
Jameson, J.
;
Acherman, J.
2001
Expression and characterization of human recombinant and a-N-actylglucosaminidase
Weber, B.
;
Hopwood, J.
;
Yogalingam, G.
2001
Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients
Perkins, K.
;
Muller, V.
;
Weber, B.
;
Hopwood, J.
2001
Biparental contribution to fetal thrombophilia in discordant twin intrauterine growth restriction
Khong, T.
;
Hague, W.
2001
Mutations in the gene for methylenetetrahydrofolate reductase, homocysteine levels, and vitamin status in women with a history of preeclampsia
Lachmeijer, A.
;
Arngrimsson, R.
;
Bastiaans, E.
;
Pals, G.
;
ten Kate, L.
;
de Vries, J.
;
Kostense, P.
;
Aarnoudse, J.
;
Dekker, G.
2001
Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for x-linked mental retardation: Mutation screening in Borjeson-Forssman-Lehmann syndrome and MRX27
Lower, K.
;
Gecz, J.
Discover
Author
6
Hopwood, J.
4
Mulley, J.
3
Berkovic, S.
3
Buchanan, G.
3
Gecz, J.
3
Greenberg, N.
3
Harris, J.
3
Scheffer, I.
3
Tilley, W.
3
Yogalingam, G.
.
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Subject
24
Humans
16
Animals
11
Male
8
Female
7
Molecular Sequence Data
6
Base Sequence
6
DNA Mutational Analysis
6
Phenotype
5
Amino Acid Sequence
5
Mice
.
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