Skip navigation
Home
Browse
Communities
& Collections
Browse Items by:
Issue Date
Author
Title
Advisor
Help
Sign on to:
My DSpace
Receive email
updates
Edit Profile
Adelaide Research & Scholarship
Adelaide Research & Scholarship
Search
Search:
All collections
Schools and Disciplines
School of Paediatrics & Reproductive Health
Obstetrics and Gynaecology
Paediatrics
for
Current filters:
Title
Author
Subject
Date Issued
Advisor
School
Department
Organisation
Equals
Contains
ID
Not Equals
Not Contains
Not ID
Title
Author
Subject
Date Issued
Advisor
School
Department
Organisation
Equals
Contains
ID
Not Equals
Not Contains
Not ID
Start a new search
Add filters:
Use filters to refine the search results.
Title
Author
Subject
Date Issued
Advisor
School
Department
Organisation
Equals
Contains
ID
Not Equals
Not Contains
Not ID
Results 1-10 of 11 (Search time: 0.003 seconds).
previous
1
2
next
Item hits:
Preview
Issue Date
Title
Author(s)
2020
Septum resection in women with a septate uterus: a cohort study
Rikken, J.F.
;
Verhorstert, K.W.
;
Emanuel, M.H.
;
Kuchenbecker, W.K.
;
Jansen, F.W.
;
Torrenga, B.
;
Schols, W.A.
;
Verhoeve, H.R.
;
Hoek, A.
;
Clark, T.J.
;
Stephenson, M.
;
Mol, B.W.
;
Van der Veen, F.
;
Van Wely, M.
;
Goddijn, M.
;
Bongers, M.Y.
;
van der Steeg, J.W.
;
Janssen, I.A.H.
;
Kapiteijn, K.
;
Torrance, H.L.
;
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.
2020
Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 mendelian neurodevelopmental disorders
Aref-Eshghi, E.
;
Kerkhof, J.
;
Pedro, V.P.
;
Barat-Houari, M.
;
Ruiz-Pallares, N.
;
Andrau, J.C.
;
Lacombe, D.
;
Van-Gils, J.
;
Fergelot, P.
;
Dubourg, C.
;
Cormier-Daire, V.
;
Rondeau, S.
;
Lecoquierre, F.
;
Saugier-Veber, P.
;
Nicolas, G.
;
Lesca, G.
;
Chatron, N.
;
Sanlaville, D.
;
Vitobello, A.
;
Faivre, L.
;
et al.
2021
Prospective characterisation of SARS-CoV-2 infections among children presenting to tertiary paediatric hospitals across Australia in 2020: a national cohort study
Wurzel, D.
;
McMinn, A.
;
Hoq, M.
;
Blyth, C.C.
;
Burgner, D.
;
Tosif, S.
;
Buttery, J.
;
Carr, J.
;
Clark, J.E.
;
Cheng, A.C.
;
Dinsmore, N.
;
Francis, J.R.
;
Kynaston, A.
;
Lucas, R.
;
Marshall, H.
;
McMullan, B.
;
Singh-Grewal, D.
;
Wood, N.
;
Macartney, K.
;
Britton, P.N.
;
et al.
2006
Newborn screening for 3-methylcrontonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment
Stadler, S.
;
Polanetz, R.
;
Maier, E.
;
Heidenreich, S.
;
Niederer, B.
;
Mayerhofer, P.
;
Lagler, F.
;
Koch, H.
;
Santer, R.
;
Fletcher, J.
;
Ranieri, E.
;
Das, A.
;
Spiekerkotter, U.
;
Schwab, K.
;
Potzsch, S.
;
Marquardt, I.
;
Hennermann, J.
;
Knerr, I.
;
Mercimek-Mahmutoglu, S.
;
Kohlschmidt, N.
;
et al.
2007
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX Consortium
de Brouwer, A.
;
Yntema, H.
;
Kleefstra, T.
;
Lugtenberg, D.
;
Oudakker, A.
;
de Vries, B.
;
van Bokhoven, H.
;
Van Esch, H.
;
Frints, S.
;
Froyen, G.
;
Fryns, J.
;
Raynaud, M.
;
Moizard, M.
;
Ronce, N.
;
Bensalem, A.
;
Moraine, C.
;
Poirier, K.
;
Castelnau, L.
;
Saillour, Y.
;
Bienvenu, T.
;
et al.
2016
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
Hu, H.
;
Haas, S.
;
Chelly, J.
;
Van Esch, H.
;
Raynaud, M.
;
De Brouwer, A.
;
Weinert, S.
;
Froyen, G.
;
Frints, S.
;
Laumonnier, F.
;
Zemojtel, T.
;
Love, M.
;
Richard, H.
;
Emde, A.
;
Bienek, M.
;
Jensen, C.
;
Hambrock, M.
;
Fischer, U.
;
Langnick, C.
;
Feldkamp, M.
;
et al.
2016
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
van Bon, B.W.M.
;
Coe, B.P.
;
Bernier, R.
;
Green, C.
;
Gerdts, J.
;
Witherspoon, K.
;
Kleefstra, T.
;
Willemsen, M.H.
;
Kumar, R.
;
Bosco, P.
;
Fichera, M.
;
Li, D.
;
Amaral, D.
;
Cristofoli, F.
;
Peeters, H.
;
Haan, E.
;
Romano, C.
;
Mefford, H.C.
;
Scheffer, I.
;
Gecz, J.
;
et al.
2010
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability
Whibley, A.
;
Plagnol, V.
;
Tarpey, P.
;
Abidi, F.
;
Fullston, T.
;
Choma, M.
;
Boucher, C.
;
Shepherd, L.
;
Willatt, L.
;
Parkin, G.
;
Smith, R.
;
Futreal, P.
;
Shaw, M.
;
Boyle, J.
;
Licata, A.
;
Skinner, C.
;
Stevenson, R.
;
Turner, G.
;
Field, M.
;
Hackett, A.
;
et al.
2007
Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study
Cavalleri, G.
;
Weale, M.
;
Shianna, K.
;
Singh, R.
;
Lynch, J.
;
Grinton, B.
;
Szoeke, C.
;
Murphy, K.
;
Kinirons, P.
;
O'Rourke, D.
;
Ge, D.
;
Depondt, C.
;
Claeys, K.
;
Pandolfo, M.
;
Gumbs, C.
;
Walley, N.
;
McNamara, J.
;
Mulley, J.
;
Linney, K.
;
Sheffield, L.
;
et al.
Discover
Author
2
Frints, S.
2
Froyen, G.
2
Haan, E.
2
Kirk, J.
2
Kleefstra, T.
2
Raynaud, M.
2
Van Esch, H.
1
Abidi, F.
1
Amaral, D.
1
Andrau, J.C.
.
next >
Subject
11
Humans
8
Female
6
Male
5
Adult
4
Phenotype
3
Adolescent
3
Australia
3
Middle Aged
3
Mutation
3
Syndrome
.
next >
Date issued
3
2020 - 2021
4
2010 - 2019
4
2006 - 2009