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Results 51-60 of 62 (Search time: 0.006 seconds).
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Issue Date
Title
Author(s)
2009
Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1
Carvalho, M.
;
Pino, M.
;
Karchin, R.
;
Beddor, J.
;
Godinho-Netto, M.
;
Mesquita, R.
;
Rodarte, R.
;
Vaz, D.
;
Monteiro, V.
;
Manoukian, S.
;
Colombo, M.
;
Ripamonti, C.
;
Rosenquist, R.
;
Suthers, G.
;
Borg, A.
;
Radice, P.
;
Grist, S.
;
Monteiro, A.
;
Billack, B.
2005
The Hunter-McAlpine syndrome results from duplication 5q35-qter
Hunter, A.
;
DuPont, B.
;
McLaughlin, M.
;
Hinton, L.
;
Baker, E.
;
Ades, L.
;
Haan, E.
;
Schwartz, C.
2010
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin
Heron, S.
;
Scheffer, I.
;
Iona, X.
;
Zuberi, S.
;
Birch, R.
;
McMahon, J.
;
Bruce, C.
;
Berkovic, S.
;
Mulley, J.
2011
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I
He, H.
;
Liyanarachchi, S.
;
Akagi, K.
;
Nagy, R.
;
Li, J.
;
Dietrich, R.
;
Li, W.
;
Sebastian, N.
;
Wen, B.
;
Xin, B.
;
Singh, J.
;
Yan, P.
;
Alder, H.
;
Haan, E.
;
Wieczorek, D.
;
Albrecht, B.
;
Puffenberger, E.
;
Wang, H.
;
Westman, J.
;
Padgett, R.
;
et al.
2007
NEDD4-2 as a potential candidate susceptibility gene for epileptic photosensitivity
Dibbens, L.
;
Ekberg, J.
;
Taylor, I.
;
Hodgson, B.
;
Conroy, S.
;
Lensink, I.
;
Kumar, S.
;
Zielinski, M.
;
Harkin, L.
;
Sutherland, G.
;
Adams, D.
;
Berkovic, S.
;
Scheffer, I.
;
Mulley, J.
;
Poronnik, P.
2012
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): A new autosomal dominant syndrome
Worthley, D.
;
Phillips, K.
;
Wayte, N.
;
Schrader, K.
;
Healey, S.
;
Kaurah, P.
;
Shulkes, A.
;
Grimpen, F.
;
Clouston, A.
;
Moore, D.
;
Cullen, D.
;
Ormonde, D.
;
Mounkley, D.
;
Wen, X.
;
Lindor, N.
;
Carniero, F.
;
Huntsman, D.
;
Chenevix-Trench, G.
;
Suthers, G.
1998
Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes
Crawley, A.
;
Yogalingam, G.
;
Muller, V.
;
Hopwood, J.
2003
Novel PHF6 mutation p.D333del causes Borjeson-Forssman-Lehmann syndrome
Baumstark, A.
;
Lower, K.
;
Sinkus, A.
;
Andriuskeveviciute, I.
;
Jurkeniene, L.
;
Gecz, J.
;
Just, W.
2004
LGI1 mutations in temporal lobe epilepsies
Berkovic, S.
;
Izzillo, P.
;
McMahon, J.
;
Harkin, L.
;
McIntosh, A.
;
Phillips, H.
;
Briellmann, R.
;
Wallace, R.
;
Mazarib, A.
;
Neufeld, M.
;
Korczyn, A.
;
Scheffer, I.
;
Mulley, J.
2002
Generalized epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1B
Wallace, R.
;
Scheffer, I.
;
Parasivam, G.
;
Barnett, S.
;
Wallace, G.
;
Sutherland, G.
;
Berkovic, S.
;
Mulley, J.
Discover
Author
17
et al.
17
Gecz, J.
12
Scheffer, I.
11
Berkovic, S.
11
Mulley, J.
9
Haan, E.
8
Tarpey, P.
7
Sutherland, G.
7
Suthers, G.
6
Dibbens, L.
.
next >
Subject
25
Mutation
20
Adult
18
Molecular Sequence Data
16
Syndrome
15
Genetic Linkage
13
Amino Acid Sequence
13
Animals
13
Child
11
Base Sequence
11
Chromosomes, Human, X
.
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Date issued
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2020 - 2021
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2010 - 2019
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2000 - 2009
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1995 - 1999