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Results 1-7 of 7 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2005
Atopic disease in childhood
Gold, M.
;
Kemp, A.
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.
2005
Sleep-disordered breathing in Prader-Willi syndrome and its association with neurobehavioral abnormalities
O'Donoghue, F.
;
Camfferman, D.
;
Kennedy, J.
;
Martin, A.
;
Couper, T.
;
Lack, L.
;
Lushington, K.
;
McEvoy, R.
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.
2005
Enzyme replacement therapy for Gaucher disease in Australia
Goldblatt, J.
;
Szer, J.
;
Fletcher, J.
;
McGill, J.
;
Rowell, J.
;
Wilson, M.
2005
Frequency of truly cryptic subtelomere abnormalities - a study of 534 patients and literature review
Yu, S.
;
Baker, E.
;
Hinton, L.
;
Eyre, H.
;
Waters, W.
;
Higgins, S.
;
Sutherland, G.
;
Haan, E.
2005
Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+)
Scheffer, I.
;
Harkin, L.
;
Dibbens, L.
;
Mulley, J.
;
Berkovic, S.
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Author
1
Abuzahra, H.
1
Archer, H.
1
Baker, E.
1
Barclay, C.
1
Bastepe, M.
1
Berkovic, S.
1
Butler, R.
1
Camfferman, D.
1
Chan, C.
1
Christodoulou, J.
.
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Subject
7
Humans
6
Female
4
Child
4
Child, Preschool
4
Mutation
3
Adolescent
2
Adult
2
Aged
2
Intellectual Disability
1
Abnormalities, Multiple
.
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