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Results 1-10 of 21 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2002
A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype
Cundy, T.
;
Hegde, M.
;
Naot, D.
;
Chong, B.
;
King, A.
;
Wallace, R.
;
Mulley, J.
;
Love, D.
;
Seidel, J.
;
Fawkner, M.
;
Banovic, T.
;
Callon, K.
;
Grey, A.
;
Reid, I.
;
Middleton-Hardie, C.
;
Cornish, J.
2002
Sodium-channel defects in benign familial neonatal-infantile seizures
Heron, S.
;
Crossland, K.
;
Andermann, E.
;
Phillips, H.
;
Hall, A.
;
Bleasel, A.
;
Shevell, M.
;
Mercho, S.
;
Seni, M.
;
Guiot, M.
;
Mulley, J.
;
Berkovic, S.
;
Scheffer, I.
2008
TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness
Guipponi, M.
;
Antonarakis, S.
;
Scott, H.
2006
Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency
Knisely, A.
;
Strautnieks, S.
;
Meier, Y.
;
Stieger, B.
;
Byrne, J.
;
Portmann, B.
;
Bull, L.
;
Pawlikowska, L.
;
Bilezikci, B.
;
Ozcay, F.
;
Laszlo, A.
;
Tiszlavicz, L.
;
Moore, L.
;
Raftos, J.
;
Arnell, H.
;
Fischler, B.
;
Nemeth, A.
;
Papadogiannakis, N.
;
Cielecka-Kuszyk, J.
;
Jankowska, I.
;
et al.
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.
2003
Analysis of CFTR mutation screening in cases of isolated fetal echogenic bowel in the South Australian population
Nicholls, C.
;
Nelson, P.
;
Poplawski, N.
;
Chin, S.
;
Fong, B.
;
Solly, P.
;
Fietz, M.
;
Fletcher, J.
2008
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
Gilfillan, G.
;
Selmer, K.
;
Roxrud, I.
;
Smith, R.
;
Kyllerman, M.
;
Eiklid, K.
;
Kroken, M.
;
Mattingsdal, M.
;
Egeland, T.
;
Stenmark, H.
;
Sjoholm, H.
;
Server, A.
;
Samuelsson, L.
;
Christianson, A.
;
Tarpey, P.
;
Whibley, A.
;
Stratton, M.
;
Futreal, P.
;
Teague, J.
;
Edkins, S.
;
et al.
2007
Mutations in CUL4B which encodes a ubiquitin E3 ligase subunit cause an X-linked mental retardation syndrome associated with aggressive outbursts seizures relative macrocephaly central obesity hypogonadism pes cavus and tremor
Tarpey, P.
;
Raymond, F.
;
O'Meara, S.
;
Edkins, S.
;
Teague, J.
;
Butler, A.
;
Dicks, E.
;
Stevens, C.
;
Tofts, C.
;
Avis, T.
;
Barthorpe, S.
;
Buck, G.
;
Cole, J.
;
Gray, K.
;
Halliday, K.
;
Harrison, R.
;
Hills, K.
;
Jenkinson, A.
;
Jones, D.
;
Menzies, A.
;
et al.
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.
Discover
Author
5
et al.
5
Gecz, J.
4
Mulley, J.
3
Berkovic, S.
3
Fletcher, J.
3
Scheffer, I.
2
Edkins, S.
2
Fryns, J.
2
Hopwood, J.
2
Moraine, C.
.
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Subject
21
Humans
16
Male
14
Child
11
Female
11
Infant
10
Adolescent
10
Adult
9
Pedigree
7
DNA Mutational Analysis
6
Infant, Newborn
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