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Issue Date
Title
Author(s)
2017
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
Geisheker, M.
;
Heymann, G.
;
Wang, T.
;
Coe, B.
;
Turner, T.
;
Stessman, H.
;
Hoekzema, K.
;
Kvarnung, M.
;
Shaw, M.
;
Friend, K.
;
Liebelt, J.
;
Barnett, C.
;
Thompson, E.
;
Haan, E.
;
Guo, H.
;
Anderlid, B.
;
Nordgren, A.
;
Lindstrand, A.
;
Vandeweyer, G.
;
Alberti, A.
;
et al.
1999
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda
Gedeon, A.
;
Colley, A.
;
Jamieson, R.
;
Thompson, E.
;
Rogers, J.
;
Sillence, D.
;
Tiller, G.
;
Mulley, J.
;
Gecz, J.
2017
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing
Jansen, I.E.
;
Ye, H.
;
Heetveld, S.
;
Lechler, M.C.
;
Michels, H.
;
Seinstra, R.I.
;
Lubbe, S.J.
;
Drouet, V.
;
Lesage, S.
;
Majounie, E.
;
Gibbs, J.R.
;
Nalls, M.A.
;
Ryten, M.
;
Botia, J.A.
;
Vandrovcova, J.
;
Simon-Sanchez, J.
;
Castillo-Lizardo, M.
;
Rizzu, P.
;
Blauwendraat, C.
;
Chouhan, A.K.
;
et al.
2020
Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaics
Gecz, J.
;
Thomas, P.Q.
2020
Genetic history from the Middle Neolithic to present on the Mediterranean island of Sardinia
Marcus, J.H.
;
Posth, C.
;
Ringbauer, H.
;
Lai, L.
;
Skeates, R.
;
Sidore, C.
;
Beckett, J.
;
Furtwängler, A.
;
Olivieri, A.
;
Chiang, C.W.K.
;
Al-Asadi, H.
;
Dey, K.
;
Joseph, T.A.
;
Liu, C.-C.
;
Der Sarkissian, C.
;
Radzevičiūtė, R.
;
Michel, M.
;
Gradoli, M.G.
;
Marongiu, P.
;
Rubino, S.
;
et al.
2018
A genomic Neolithic time transect of hunter-farmer admixture in central Poland
Fernandes, D.M.
;
Strapagiel, D.
;
Borówka, P.
;
Marciniak, B.
;
Żądzińska, E.
;
Sirak, K.
;
Siska, V.
;
Grygiel, R.
;
Carlsson, J.
;
Manica, A.
;
Lorkiewicz, W.
;
Pinhasi, R.
2020
Cohort profile: the Australian genetics of depression study
Byrne, E.M.
;
Kirk, K.M.
;
Medland, S.E.
;
McGrath, J.J.
;
Colodro-Conde, L.
;
Parker, R.
;
Cross, S.
;
Sullivan, L.
;
Statham, D.J.
;
Levinson, D.F.
;
Licinio, J.
;
Wray, N.R.
;
Hickie, I.B.
;
Martin, N.G.
2020
Can we blame fathers who are obese peri-conception, for increasing chronic disease risk in children?
McPherson, N.O.
2023
Human Genetic Research in Wallacea and Sahul: Recent Findings and Future Prospects
Taufik, L.
;
Teixeira, J.C.
;
Llamas, B.
;
Sudoyo, H.
;
Tobler, R.
;
Purnomo, G.A.
1997
Rapid detection of euchromatin by Alu-PRINS: use in clinical cytogenetics
Callen, D.
;
Yip, M.Y.
;
Eyre, H.
Discover
Author
22
Mulley, J.
17
Callen, D.
17
et al.
10
Gecz, J.
10
Gedeon, A.
10
Sutherland, G.
9
Richards, R.
8
Eyre, H.
6
Crawford, J.
6
Doggett, N.
.
next >
Subject
49
Male
47
Female
30
Animals
27
Molecular Sequence Data
23
Chromosome Mapping
19
Pedigree
18
Amino Acid Sequence
16
Base Sequence
16
Chromosomes, Human, Pair 16
16
Intellectual Disability
.
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Date issued
13
2020 - 2023
44
2010 - 2019
3
2000 - 2009
52
1995 - 1999