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Issue Date
Title
Author(s)
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.
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.
Discover
Author
1
Abidi, F.
1
Amaral, D.
1
Arnold, S.
1
Bernier, R.
1
Bienek, M.
1
Blomfield, P.
1
Bosco, P.
1
Boucher, C.
1
Boyle, J.
1
Buchanan, D.
.
next >
Subject
4
Humans
3
Adult
3
Female
3
Male
2
Adaptor Proteins, Signal Transducing
2
Adolescent
2
Intellectual Disability
2
Middle Aged
2
Nuclear Proteins
1
Adenosine Triphosphatases
.
next >
Date issued
2
2016
1
2014
1
2010