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Issue Date
Title
Author(s)
2008
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
Dibbens, L.
;
Tarpey, P.
;
Hynes, K.
;
Bayly, M.
;
Scheffer, I.
;
Smith, R.
;
Bomar, J.
;
Sutton, E.
;
Vandeleur, L.
;
Shoubridge, C.
;
Edkins, S.
;
Turner, S.
;
Stevens, C.
;
O'Meara, S.
;
Tofts, C.
;
Barthorpe, S.
;
Buck, G.
;
Cole, J.
;
Halliday, K.
;
Jones, D.
;
et al.
2007
Epidemiological comparisons of problems and positive qualities reported by adolescents in 24 countries
Rescorla, L.
;
Achenbach, T.
;
Ivanova, M.
;
Dumenci, L.
;
Almqvist, F.
;
Bilenberg, N.
;
Bird, H.
;
Broberg, A.
;
Dobrean, A.
;
Dopfner, M.
;
Erol, N.
;
Forns, M.
;
Hannesdottir, H.
;
Kanbayashi, Y.
;
Lambert, M.
;
Leung, P.
;
Minaei, A.
;
Mulatu, M.
;
Novik, T.
;
Oh, K.
;
et al.
1997
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome
Muenke, M.
;
Gripp, K.
;
McDonald-McGinn, D.
;
Gaudenz, K.
;
Whitaker, L.
;
Bartlett, S.
;
Markowitz, R.
;
Robin, N.
;
Nwokoro, N.
;
Mulvihill, J.
;
Losken, H.
;
Mulliken, J.
;
Guttmacher, A.
;
Wilroy, R.
;
Clarke, L.
;
Hollway, G.
;
Ades, L.
;
Haan, E.
;
Mulley, J.
;
Cohen, M.
;
et al.
2007
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitus
Raymond, F.
;
Tarpey, P.
;
Edkins, S.
;
Tofts, C.
;
O'Meara, S.
;
Teague, J.
;
Butler, A.
;
Stevens, C.
;
Barthorpe, S.
;
Buck, G.
;
Cole, J.
;
Dicks, E.
;
Gray, K.
;
Harrison, R.
;
Hills, K.
;
Hinton, J.
;
Jones, D.
;
Menzies, A.
;
Perry, J.
;
Raine, K.
;
et al.
2019
Preferred learning modalities and practice for critical skills: a global survey of paediatric emergency medicine clinicians
Craig, S.S.
;
Auerbach, M.
;
Cheek, J.A.
;
Babl, F.E.
;
Oakley, E.
;
Nguyen, L.
;
Rao, A.
;
Dalton, S.
;
Lyttle, M.D.
;
Mintegi, S.
;
Nagler, J.
;
Mistry, R.D.
;
Dixon, A.
;
Rino, P.
;
Kohn-Loncarica, G.
;
Dalziel, S.R.
;
Tzimenatos, L.
;
Mistry, R.
;
Brown, K.
;
Powell, E.
;
et al.
2018
A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers
Zhang, M.
;
Ferrari, R.
;
Tartaglia, M.C.
;
Keith, J.
;
Surace, E.I.
;
Wolf, U.
;
Sato, C.
;
Grinberg, M.
;
Liang, Y.
;
Xi, Z.
;
Dupont, K.
;
McGoldrick, P.
;
Weichert, A.
;
McKeever, P.M.
;
Schneider, R.
;
McCorkindale, M.D.
;
Manzoni, C.
;
Rademakers, R.
;
Graff-Radford, N.R.
;
Dickson, D.W.
;
et al.
2014
Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing
Buchanan, D.
;
Tan, Y.
;
Walsh, M.
;
Clendenning, M.
;
Metcalf, A.
;
Ferguson, K.
;
Arnold, S.
;
Thompson, B.
;
Lose, F.
;
Parsons, M.
;
Walters, R.
;
Pearson, S.
;
Cummings, M.
;
Oehler, M.
;
Blomfield, P.
;
Quinn, M.
;
Kirk, J.
;
Stewart, C.
;
Obermair, A.
;
Young, J.
;
et al.
2021
Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility
Tudini, E.
;
Davidson, A.L.
;
Dressel, U.
;
Andrews, L.
;
Antill, Y.
;
Crook, A.
;
Field, M.
;
Gattas, M.
;
Harris, R.
;
Kirk, J.
;
Pachter, N.
;
Salmon, L.
;
Susman, R.
;
Townshend, S.
;
Trainer, A.H.
;
Tucker, K.M.
;
Mitchell, G.
;
James, P.A.
;
Ward, R.L.
;
Mar Fan, H.
;
et al.
2011
17-alpha-hydroxyprogesterone caproate for the prevention of adverse neonatal outcome in multiple pregnancies: A randomized controlled trial
Lim, A.
;
Schuit, E.
;
Bloemenkamp, K.
;
Bernardus, R.
;
Duvekot, J.
;
Erwich, J.
;
van Eyck, J.
;
Groenwold, R.
;
Hasaart, T.
;
Hummel, P.
;
Kars, M.
;
Kwee, A.
;
van Oirschot, C.
;
van Pampus, M.
;
Papatsonis, D.
;
Porath, M.
;
Spaanderman, M.
;
Willekes, C.
;
Wilpshaar, J.
;
Mol, B.
;
et al.
2018
Maternal smoking during pregnancy and offspring overweight: is there a dose-response relationship? An individual patient data meta-analysis
Albers, L.
;
Sobotzki, C.
;
Kuß, O.
;
Ajslev, T.
;
Batista, R.
;
Bettiol, H.
;
Brabin, B.
;
Buka, S.
;
Cardoso, V.
;
Clifton, V.
;
Devereux, G.
;
Gilman, S.
;
Grzeskowiak, L.
;
Heinrich, J.
;
Hummel, S.
;
Jacobsen, G.
;
Jones, G.
;
Koshy, G.
;
Morgen, C.
;
Oken, E.
;
et al.
Discover
Author
8
Bloemenkamp, K.
7
Gecz, J.
7
Kwee, A.
7
Porath, M.
6
Tarpey, P.
5
Papatsonis, D.
5
van Pampus, M.
4
Edkins, S.
4
Field, M.
4
Haan, E.
.
next >
Subject
37
Male
19
Adult
18
Mutation
18
Pedigree
15
Child
11
Infant, Newborn
11
Pregnancy
10
Adolescent
9
Child, Preschool
9
Mental Retardation, X-Linked
.
next >
Date issued
3
2020 - 2022
31
2010 - 2019
16
2000 - 2009
1
1997 - 1999