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Results 1-10 of 12 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2006
FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited
Ades, L.
;
Sullivan, K.
;
Biggin, A.
;
Haan, E.
;
Brett, M.
;
Holman, K.
;
Dixon, J.
;
Robertson, S.
;
Holmes, A.
;
Rogers, J.
;
Bennetts, B.
2004
Twenty-two novel mutations in the lysosomal a-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II
Hermans, M.
;
van Leenen, D.
;
Kroos, M.
;
Beesley, C.
;
Van der Ploeg, A.
;
Sakuraba, H.
;
Wevers, R.
;
Kleijer, W.
;
Mikelakakis, H.
;
Kirk, E.
;
Fletcher, J.
;
Bosshard, N.
;
Basel-Vanagaite, L.
;
Besley, G.
;
Reuser, A.
2004
Genetic architecture of idiopathic generalized epilepsy: Clinical genetic analysis of 55 multiplex families
Marini, C.
;
Scheffer, I.
;
Crossland, K.
;
Grinton, B.
;
Phillips, F.
;
McMahon, J.
;
Turner, S.
;
Dean, J.
;
Kivity, S.
;
Mazarib, A.
;
Neufeld, M.
;
Korczyn, A.
;
Harkin, L.
;
Dibbens, L.
;
Wallace, R.
;
Mulley, J.
;
Berkovic, S.
2007
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy
Karageorgos, L.
;
Brooks, D.
;
Harmatz, P.
;
Ketteridge, D.
;
Pollard, A.
;
Melville, E.
;
Parkinson-Lawrence, E.
;
Clements, P.
;
Hopwood, J.
2003
Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4
Shaw, M.
;
Brunetti-Pierre, N.
;
Kadasi, L.
;
Kovacova, V.
;
van Maldergem, L.
;
De Brasi, D.
;
Salerno, M.
;
Gecz, J.
2002
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
Bienvenu, T.
;
Poirier, K.
;
Friocourt, G.
;
Bahi, N.
;
Beaumont, D.
;
Fauchereau, F.
;
Jeema, L.
;
Zemni, R.
;
Vinet, M.
;
Francis, F.
;
Couvert, P.
;
Gomot, M.
;
Moraine, C.
;
van Bokhoven, H.
;
Kalscheuer, V.
;
Frints, S.
;
Gecz, J.
;
Ohzaki, K.
;
Chaabouni, H.
;
Fryns, J.
;
et al.
2007
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor
Ali, A.
;
Christie, P.
;
Grigorieva, I.
;
Harding, B.
;
Van Esch, H.
;
Ahmed, S.
;
Bitner-Glindzicz, M.
;
Blind, E.
;
Bloch, C.
;
Christin, P.
;
Clayton, P.
;
Gecz, J.
;
Gilbert-Dussardier, B.
;
Guillen-Navarro, E.
;
Hackett, A.
;
Halac, I.
;
Hendy, G.
;
Lalloo, F.
;
Mache, C.
;
Mughal, Z.
;
et al.
2005
Enzyme replacement therapy for Gaucher disease in Australia
Goldblatt, J.
;
Szer, J.
;
Fletcher, J.
;
McGill, J.
;
Rowell, J.
;
Wilson, M.
2008
Human nocturnal frontal lobe epilepsy: Pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor β-subunit mutations outside the ion channel pore
Hoda, J.
;
Gu, W.
;
Friedli, M.
;
Phillips, H.
;
Bertrand, S.
;
Antonarakis, S.
;
Goudie, D.
;
Roberts, R.
;
Scheffer, I.
;
Marini, C.
;
Patel, J.
;
Berkovic, S.
;
Mulley, J.
;
Steinlein, O.
;
Bertrand, D.
2004
Mutations of the mitochondrial ND1 gene as a cause of MELAS
Kirby, D.
;
McFarland, R.
;
Ohtake, A.
;
Dunning, C.
;
Ryan, M.
;
Wilson, C.
;
Ketteridge, D.
;
Turnbull, D.
;
Thorburn, D.
;
Taylor, R.
Discover
Author
3
Berkovic, S.
3
Gecz, J.
2
Dibbens, L.
2
et al.
2
Fletcher, J.
2
Hopwood, J.
2
Ketteridge, D.
2
Marini, C.
2
Mulley, J.
2
Scheffer, I.
.
next >
Subject
3
DNA Mutational Analysis
3
Fibroblasts
3
Genotype
3
Phenotype
2
Abnormalities, Multiple
2
Aged
2
Amino Acid Sequence
2
Animals
2
Cells, Cultured
2
Follow-Up Studies
.
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