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Results 1-10 of 15 (Search time: 0.001 seconds).
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Issue Date
Title
Author(s)
2005
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey Disease) expands the spectrum of collagen-related disorders
Gensure, R.
;
Makitie, O.
;
Barclay, C.
;
Chan, C.
;
DePalma, S.
;
Bastepe, M.
;
Abuzahra, H.
;
Couper, R.
;
Mundlos, S.
;
Sillence, D.
;
Kokko, L.
;
Seidman, J.
;
Cole, W.
;
Juppner, H.
2002
Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation
Turner, G.
;
Partington, M.
;
Kerr, B.
;
Mangelsdorf, M.
;
Gecz, J.
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.
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.
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.
2004
Phase 2 evaluation of parainfluenza type 3 cold passage mutant 45 live attenuated vaccine in healthy children 6-18 months old
Belshe, R.
;
Newman, F.
;
Tsai, T.
;
Karron, R.
;
Reisinger, K.
;
Roberton, D.
;
Marshall, H.
;
Schwartz, R.
;
King, J.
;
Henderson, F.
;
Rodriguez, W.
;
Severs, J.
;
Wright, P.
;
Keyserling, H.
;
Weinberg, G.
;
Bromberg, K.
;
Loh, R.
;
Sly, P.
;
McIntyre, P.
;
Ziegler, J.
;
et al.
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.
2002
Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX
Stromme, P.
;
Mangelsdorf, M.
;
Scheffer, I.
;
Gecz, J.
2005
Early onset seizures and Rett-like features associated with mutations in CDKL5
Evans, J.
;
Archer, H.
;
Colley, J.
;
Ravn, K.
;
Nielsen, J.
;
Kerr, A.
;
Williams, E.
;
Christodoulou, J.
;
Gecz, J.
;
Jardine, P.
;
Wright, M.
;
Pilz, D.
;
Lazarou, L.
;
Cooper, D.
;
Sampson, J.
;
Butler, R.
;
Whatley, S.
;
Clarke, A.
Discover
Author
4
Gecz, J.
4
Scheffer, I.
3
Berkovic, S.
3
et al.
3
Mulley, J.
2
Fletcher, J.
2
Mangelsdorf, M.
2
Wallace, R.
1
Abuzahra, H.
1
Acherman, J.
.
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Subject
15
Humans
11
Male
9
Child, Preschool
8
Female
7
Child
5
Adolescent
5
Adult
5
Infant, Newborn
5
Pedigree
5
Phenotype
.
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Date issued
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2007
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2006
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2005
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2004
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2002
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2001