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Results 11-20 of 51 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2004
Genetic architecture of idiopathic generalized epilepsy: Clinical genetic analysis of 55 multiplex families
Marini, C.
;
Scheffer, I.
;
Crossland, K.
;
Grinton, B.
;
Phillips, F.
;
McMahon, J.
;
Turner, S.
;
Dean, J.
;
Kivity, S.
;
Mazarib, A.
;
Neufeld, M.
;
Korczyn, A.
;
Harkin, L.
;
Dibbens, L.
;
Wallace, R.
;
Mulley, J.
;
Berkovic, S.
2008
Prader Willi Syndrome and excessive daytime sleepiness
Camfferman, D.
;
McEvoy, R.
;
O'Donoghue, F.
;
Lushington, K.
2007
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy
Karageorgos, L.
;
Brooks, D.
;
Harmatz, P.
;
Ketteridge, D.
;
Pollard, A.
;
Melville, E.
;
Parkinson-Lawrence, E.
;
Clements, P.
;
Hopwood, J.
2000
Breast cancer screening uptake in women at increased risk of developing hereditary breast cancer
Meiser, B.
;
Butow, P.
;
Barratt, A.
;
Friedlander, M.
;
Kirk, J.
;
Gaff, C.
;
Haan, E.
;
Aittomaki, K.
;
Tucker, K.
2005
Sleep-disordered breathing in Prader-Willi syndrome and its association with neurobehavioral abnormalities
O'Donoghue, F.
;
Camfferman, D.
;
Kennedy, J.
;
Martin, A.
;
Couper, T.
;
Lack, L.
;
Lushington, K.
;
McEvoy, R.
2003
Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4
Shaw, M.
;
Brunetti-Pierre, N.
;
Kadasi, L.
;
Kovacova, V.
;
van Maldergem, L.
;
De Brasi, D.
;
Salerno, M.
;
Gecz, J.
2001
Long-term outcomes of genetic counseling in women at increased risk of developing hereditary breast cancer
Meiser, B.
;
Butow, P.
;
Barratt, A.
;
Schneiden, V.
;
Gattas, M.
;
Kirk, J.
;
Gaff, C.
;
Suthers, G.
;
Tucker, K.
2007
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation
Upadyaya, M.
;
Huson, S.
;
Davies, M.
;
Thomas, N.
;
Chuzhanova, N.
;
Giovannini, S.
;
Evans, D.
;
Howard, E.
;
Kerr, B.
;
Kerr, B.
;
Consoli, C.
;
Side, L.
;
Adams, D.
;
Pierpont, M.
;
Hatchen, R.
;
Barnicoat, A.
;
Li, H.
;
Wallace, P.
;
Van Biervliet, J.
;
Stevenson, D.
;
et al.
2002
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
Bienvenu, T.
;
Poirier, K.
;
Friocourt, G.
;
Bahi, N.
;
Beaumont, D.
;
Fauchereau, F.
;
Jeema, L.
;
Zemni, R.
;
Vinet, M.
;
Francis, F.
;
Couvert, P.
;
Gomot, M.
;
Moraine, C.
;
van Bokhoven, H.
;
Kalscheuer, V.
;
Frints, S.
;
Gecz, J.
;
Ohzaki, K.
;
Chaabouni, H.
;
Fryns, J.
;
et al.
2002
National study of adverse reactions after vaccination with bacille Calmette-Guérin
Turnbull, F.
;
McIntyre, P.
;
Achat, H.
;
Wang, H.
;
Stapledon, R.
;
Gold, M.
;
Burgess, M.
Discover
Author
10
Hopwood, J.
5
Meikle, P.
4
Berkovic, S.
4
Brooks, D.
4
Gold, M.
4
Haan, E.
4
Harmatz, P.
4
Ketteridge, D.
3
Couper, J.
3
et al.
.
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Subject
51
Humans
38
Female
35
Male
33
Child
24
Middle Aged
22
Child, Preschool
14
Infant
13
Aged
10
Mutation
7
Phenotype
.
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Date issued
6
2009
7
2008
8
2007
3
2006
7
2005
3
2004
6
2003
4
2002
3
2001
4
2000
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