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Results 41-49 of 49 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
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.
1998
ARA, a novel ABC transporter, is located at 16p13.1, is deleted in inv(16) leukemias, & is shown to be expressed in primitive hematopoietic precursors.
Kuss, B.
;
O'Neill, G.
;
Eyre, H.
;
Doggett, N.
;
Callen, D.
;
Davey, R.
1998
The human dead ringer/bright homolog, DRIL1: cDNA cloning, gene structure, and mapping to D19S886, a marker on 19p13.3 that is strictly linked to the Peutz-Jeghers Syndrome.
Kortschak, R.
;
Reimann, H.
;
Zimmer, M.
;
Eyre, H.
;
Saint, R.
;
Jenne, D.
2018
Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism
Van Eyk, C.
;
Corbett, M.
;
Gardner, A.
;
Van Bon, B.
;
Broadbent, J.
;
Harper, K.
;
MacLennan, A.
;
Gecz, J.
1997
Chromosomal localisation of the human P2y6 purinoceptor gene and phylogenetic analysis of the P2y purinoceptor family
Somers, G.
;
Hammet, F.
;
Woollatt, E.
;
Richards, R.
;
Southey, M.
;
Venter, D.
2022
A custom hybridisation enrichment forensic intelligence panel to infer biogeographic ancestry, hair and eye colour, and Y chromosome lineage
Bardan, F.
;
Higgins, D.
;
Austin, J.J.
Discover
Author
16
Mulley, J.
9
Gedeon, A.
7
Callen, D.
7
et al.
7
Gecz, J.
6
Eyre, H.
6
Sutherland, G.
5
Colley, A.
5
Haan, E.
5
Richards, R.
.
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Subject
41
Female
17
Chromosome Mapping
17
Pedigree
12
Genetic Linkage
12
Intellectual Disability
12
Molecular Sequence Data
12
X Chromosome
9
Amino Acid Sequence
9
Animals
9
Genetic Markers
.
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Date issued
5
2020 - 2022
15
2010 - 2019
1
2000 - 2009
28
1995 - 1999