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Issue Date
Title
Author(s)
1998
Analysis of Australian Crohn's disease pedigrees refines the localization for susceptibility to inflammatory bowel disease on chromosome 16
Cavanaugh, J.
;
Callen, D.
;
Wilson, S.
;
Stanford, P.
;
Sraml, M.
;
Gorska, M.
;
Crawford, J.
;
Whitmore, S.
;
Shlegel, C.
;
Foote, S.
;
Kohonen-Corish, M.
;
Pavli, P.
1998
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.
Town, M.
;
Jean, G.
;
Cherqui, S.
;
Attard, M.
;
Forestier, L.
;
Whitmore, S.
;
Callen, D.
;
Gribouval, O.
;
Broyer, M.
;
Bates, G.
;
van't Hoff, W.
;
Antignac, C.
2011
Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations
Dibbens, L.
;
Kneen, R.
;
Bayly, M.
;
Heron, S.
;
Arsov, T.
;
Damiano, J.
;
Desai, T.
;
Gibbs, J.
;
McKenzie, F.
;
Mulley, J.
;
Ronan, A.
;
Scheffer, I.
2011
Identification of SOX3 as an XX male sex reversal gene in mice and humans
Sutton, E.
;
Hughes, J.
;
White, S.
;
Sekido, R.
;
Tan, J.
;
Arboleda, V.
;
Rogers, N.
;
Knower, K.
;
Rowley, L.
;
Eyre, H.
;
Rizzoti, K.
;
McAninch, D.
;
Golcalves, J.
;
Slee, J.
;
Turbitt, E.
;
Bruno, D.
;
Bengtsson, H.
;
Harley, V.
;
Vilain, E.
;
Sinclair, A.
;
et al.
1995
FRAXE and mental retardation
Mulley, J.
;
Yu, S.
;
Loesch, D.
;
Hay, D.
;
Donnelly, A.
;
Gedeon, A.
;
Carbonell, P.
;
Lopez, I.
;
Glover, G.
;
Garbarron, I.
;
Yu, P.
;
Baker, E.
;
Haan, E.
;
Hockey, A.
;
Knight, S.
;
Daview, K.
;
Richards, R.
;
Sutherland, G.
1998
PAK3 mutation in nonsyndromic X-linked mental retardation
Allen, K.
;
Gleeson, J.
;
Bagrodia, S.
;
Partington, M.
;
MacMillan, J.
;
Cerione, R.
;
Mulley, J.
;
Walsh, C.
2017
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Stessman, H.
;
Xiong, B.
;
Coe, B.
;
Wang, T.
;
Hoekzema, K.
;
Fenckova, M.
;
Kvarnung, M.
;
Gerdts, J.
;
Trinh, S.
;
Cosemans, N.
;
Vives, L.
;
Lin, J.
;
Turner, T.
;
Santen, G.
;
Ruivenkamp, C.
;
Kriek, M.
;
Van Haeringen, A.
;
Aten, E.
;
Friend, K.
;
Liebelt, J.
;
et al.
2018
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
Jansen, S.
;
Hoischen, A.
;
Coe, B.
;
Carvill, G.
;
van Esch, H.
;
Bosch, D.
;
Andersen, U.
;
Baker, C.
;
Bauters, M.
;
Bernier, R.
;
van Bon, B.
;
Claahsen-van der Grinten, H.
;
Gecz, J.
;
Gilissen, C.
;
Grillo, L.
;
Hackett, A.
;
Kleefstra, T.
;
Koolen, D.
;
Kvarnung, M.
;
Larsen, M.
;
et al.
1998
Localisation of human cadherin genes to chromosome regions exhibiting cancer-related loss of heterozygosity.
Kremmidiotis, G.
;
Baker, E.
;
Crawford, J.
;
Eyre, H.
;
Nahmias, J.
;
Callen, D.
2017
Modelling predictors of molecular response to frontline imatinib for patients with chronic myeloid leukaemia
Banjar, H.
;
Ranasinghe, D.
;
Brown, F.
;
Adelson, D.
;
Kroger, T.
;
Leclercq, T.
;
White, D.
;
Hughes, T.
;
Chaudhri, N.
;
Speletas, M.
Discover
Author
15
Mulley, J.
9
Callen, D.
8
Gedeon, A.
7
et al.
6
Eyre, H.
6
Gecz, J.
6
Sutherland, G.
5
Colley, A.
5
Crawford, J.
5
Haan, E.
.
next >
Subject
41
Male
16
Pedigree
13
Chromosome Mapping
12
Genetic Linkage
12
Intellectual Disability
12
Molecular Sequence Data
11
X Chromosome
9
Adult
9
Child
8
Amino Acid Sequence
.
next >
Date issued
6
2020 - 2022
14
2010 - 2019
27
1995 - 1999