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Results 11-20 of 37 (Search time: 0.006 seconds).
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Issue Date
Title
Author(s)
2013
A novel prion disease associated with diarrhea and autonomic neuropathy
Mead, S.
;
Gandhi, S.
;
Beck, J.
;
Caine, D.
;
Gallujipali, D.
;
Carswell, C.
;
Hyare, H.
;
Joiner, S.
;
Ayling, H.
;
Lashley, T.
;
Linehan, J.M.
;
Al-Doujaily, H.
;
Sharps, B.
;
Revesz, T.
;
Sandberg, M.K.
;
Reilly, M.M.
;
Koltzenburg, M.
;
Forbes, A.
;
Rudge, P.
;
Brandner, S.
;
et al.
2015
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis
Ramos-Brossier, M.
;
Montani, C.
;
Lebrun, N.
;
Gritti, L.
;
Martin, C.
;
Seminatore-Nole, C.
;
Toussaint, A.
;
Moreno, S.
;
Poirier, K.
;
Dorseuil, O.
;
Chelly, J.
;
Hackett, A.
;
Gecz, J.
;
Bieth, E.
;
Faudet, A.
;
Heron, D.
;
Kooy, R.
;
Loeys, B.
;
Humeau, Y.
;
Sala, C.
;
et al.
2016
Point mutations in Exon 1B of APC reveal gastric adenocarcinoma and proximal polyposis of the stomach as a familial adenomatous polyposis variant
Li, J.
;
Woods, S.
;
Healey, S.
;
Beesley, J.
;
Chen, X.
;
Lee, J.
;
Sivakumaran, H.
;
Wayte, N.
;
Nones, K.
;
Waterfall, J.
;
Pearson, J.
;
Patch, A.
;
Senz, J.
;
Ferreira, M.
;
Kaurah, P.
;
MacKenzie, R.
;
Heravi-Moussavi, A.
;
Hansford, S.
;
Lannagan, T.
;
Spurdle, A.
;
et al.
2016
Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies
Lewinsohn, M.
;
Brown, A.L.
;
Weinel, L.M.
;
Phung, C.
;
Rafidi, G.
;
Lee, M.K.
;
Schreiber, A.W.
;
Feng, J.
;
Babic, M.
;
Chong, C.E.
;
Lee, Y.
;
Yong, A.
;
Suthers, G.K.
;
Poplawski, N.
;
Altree, M.
;
Phillips, K.
;
Jaensch, L.
;
Fine, M.
;
D'Andrea, R.J.
;
Lewis, I.D.
;
et al.
2015
Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures
Yamamoto, T.
;
Shimojima, K.
;
Sangu, N.
;
Komoike, Y.
;
Ishii, A.
;
Abe, S.
;
Yamashita, S.
;
Imai, K.
;
Kubota, T.
;
Fukasawa, T.
;
Okanishi, T.
;
Enoki, H.
;
Tanabe, T.
;
Saito, A.
;
Furukawa, T.
;
Shimizu, T.
;
Milligan, C.
;
Petrou, S.
;
Heron, S.
;
Dibbens, L.
;
et al.
;
Ishii, R.
2013
Rare variants in single-minded 1 (SIM1) are associated with severe obesity
Ramachandrappa, S.
;
Raimondo, A.
;
Cali, A.
;
Keogh, J.
;
Henning, E.
;
Saeed, S.
;
Thompson, A.
;
Garg, S.
;
Bochukova, E.
;
Brage, S.
;
Trowse, V.
;
Wheeler, E.
;
Sullivan, A.
;
Dattani, M.
;
Clayton, P.
;
Datta, V.
;
Bruning, J.
;
Wareham, N.
;
O'Rahilly, S.
;
Peet, D.
;
et al.
2014
Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma
Aoude, L.
;
Pritchard, A.
;
Robles-Espinoza, C.
;
Wadt, K.
;
Harland, M.
;
Choi, J.
;
Gartside, M.
;
Quesada, V.
;
Johansson, P.
;
Palmer, J.
;
Ramsay, A.
;
Zhang, X.
;
Jones, K.
;
Symmons, J.
;
Holland, E.
;
Schmid, H.
;
Bonazzi, V.
;
Woods, S.
;
Dutton-Regester, K.
;
Stark, M.
;
et al.
2016
Multiplex families with epilepsy: success of clinical and molecular genetic characterization
Afawi, Z.
;
Oliver, K.L.
;
Kivity, S.
;
Mazarib, A.
;
Blatt, I.
;
Neufeld, M.Y.
;
Helbig, K.L.
;
Goldberg-Stern, H.
;
Misk, A.J.
;
Straussberg, R.
;
Walid, S.
;
Mahajnah, M.
;
Lerman-Sagie, T.
;
Ben-Zeev, B.
;
Kahana, E.
;
Masalha, R.
;
Kramer, U.
;
Ekstein, D.
;
Shorer, Z.
;
Wallace, R.H.
;
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.
2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
Heron, S.
;
Grinton, B.
;
Kivity, S.
;
Afawi, Z.
;
Zuberi, S.
;
Hughes, J.
;
Pridmore, C.
;
Hodgson, B.
;
Iona, X.
;
Sadleir, L.
;
Pelekanos, J.
;
Herlenius, E.
;
Goldberg-Stern, H.
;
Bassan, H.
;
Haan, E.
;
Korczyn, A.
;
Gardner, A.
;
Corbett, M.
;
Gecz, J.
;
Thomas, P.
;
et al.
Discover
Author
9
Tarpey, P.
8
Gecz, J.
7
Edkins, S.
6
O'Meara, S.
6
Smith, R.
5
Barthorpe, S.
5
Buck, G.
5
Hackett, A.
5
Shaw, M.
5
Stevens, C.
.
next >
Subject
34
Female
18
Mutation
12
Child
12
Molecular Sequence Data
11
Animals
11
Child, Preschool
11
Mental Retardation, X-Linked
10
Adult
9
Adolescent
9
Amino Acid Sequence
.
next >
Date issued
3
2020 - 2021
20
2010 - 2019
12
2000 - 2009
2
1997 - 1999