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Results 1-10 of 17 (Search time: 0.004 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.
2015
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity
Brookes, E.
;
Laurent, B.
;
Õunap, K.
;
Carroll, R.
;
Moeschler, J.
;
Field, M.
;
Schwartz, C.
;
Gecz, J.
;
Shi, Y.
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.
2015
Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder
Kumar, R.
;
Corbett, M.
;
Smith, N.
;
Jolly, L.
;
Tan, C.
;
Keating, D.
;
Duffield, M.
;
Utsumi, T.
;
Moriya, K.
;
Smith, K.
;
Hoischen, A.
;
Abbott, K.
;
Harbord, M.
;
Compton, A.
;
Woenig, J.
;
Arts, P.
;
Kwint, M.
;
Wieskamp, N.
;
Gijsen, S.
;
Veltman, J.
;
et al.
2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
Heron, S.
;
Grinton, B.
;
Kivity, S.
;
Afawi, Z.
;
Zuberi, S.
;
Hughes, J.
;
Pridmore, C.
;
Hodgson, B.
;
Iona, X.
;
Sadleir, L.
;
Pelekanos, J.
;
Herlenius, E.
;
Goldberg-Stern, H.
;
Bassan, H.
;
Haan, E.
;
Korczyn, A.
;
Gardner, A.
;
Corbett, M.
;
Gecz, J.
;
Thomas, P.
;
et al.
1997
Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene
Sampson, J.
;
Maheshwar, M.
;
Aspinwall, R.
;
Thompson, P.
;
Cheadle, J.
;
Ravine, D.
;
Roy, S.
;
Haan, E.
;
Bernstein, J.
;
Harris, P.
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.
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.
Discover
Author
6
Gecz, J.
4
et al.
4
Scheffer, I.
3
Berkovic, S.
3
Haan, E.
3
Mulley, J.
2
Christodoulou, J.
2
Compton, A.
2
Corbett, M.
2
Dibbens, L.
.
next >
Subject
17
Humans
13
Female
11
Child, Preschool
10
Child
7
Infant, Newborn
6
Adult
6
Pedigree
5
Adolescent
4
Intellectual Disability
4
Nerve Tissue Proteins
.
next >
Date issued
5
2010 - 2015
11
2000 - 2009
1
1997 - 1999