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Results 21-28 of 28 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
1996
Positional cloning of the Fanconi anaemia group A gene
Apostolou, S.
;
Whitmore, S.
;
Crawford, J.
;
Lennon, G.
;
Sutherland, G.
;
Callen, D.
;
Ianzano, L.
;
Savino, M.
;
d'Apolito, M.
;
Notarangelo, A.
;
Memeo, E.
;
Piemontese, M.
;
Zelante, L.
;
Savoia, A.
;
Gibson, R.
;
Tipping, A.
;
Morgan, N.
;
Hassock, S.
;
Jansen, S.
;
de Ravel, T.
;
et al.
2003
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
Kalscheuer, V.
;
Freude, K.
;
Musante, L.
;
Jensen, L.
;
Yntema, H.
;
Gecz, J.
;
Sefiani, A.
;
Hoffmann, K.
;
Moser, B.
;
Haas, S.
;
Gurok, U.
;
Haesler, S.
;
Aranda, B.
;
Nshedjan, A.
;
Tzschach, A.
;
Hartmann, N.
;
Roloff, T.
;
Shoichet, S.
;
Hagens, O.
;
Tao, J.
;
et al.
1998
FRA10B structure reveals common elements in repeat expansion and chromosomal fragile site genesis
Hewett, D.
;
Handt, O.
;
Hobson, L.
;
Mangelsdorf, M.
;
Eyre, H.
;
Baker, E.
;
Sutherland, G.
;
Schuffenhauer, S.
;
Mao, J.I.
;
Richards, R.
1998
Preferential pre-mRNA utilisation of an upstream cryptic 5' splice site created by a single base deletion mutation in exon 37 of the FBN-1 gene
Gibson, M.
;
Ellis, S.
;
Ades, L.
;
Haan, E.
;
Cleary, E.
2003
Pex13 inactivation in the mouse disrupts peroxisome biogenesis and leads to a Zellweger syndrome phenotype
Maxwell, M.
;
Bjorkman, J.
;
Nguyen, T.
;
Sharp, P.
;
Finnie, J.
;
Paterson, C.
;
Tonks, I.
;
Paton, B.
;
Kay, G.
;
Crane, D.
2012
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing
Calvo, S.
;
Compton, A.
;
Hershman, S.
;
Lim, S.
;
Lieber, D.
;
Tucker, E.
;
Laskowski, A.
;
Garone, C.
;
Liu, S.
;
Jaffe, D.
;
Christodoulou, J.
;
Fletcher, J.
;
Bruno, D.
;
Goldblatt, J.
;
DiMauro, S.
;
Thorburn, D.
;
Mootha, V.
2006
ZNF674: A new Kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation
Lugtenberg, D.
;
Yntema, H.
;
Banning, M.
;
Oudakker, A.
;
Firth, H.
;
Willatt, L.
;
Raynaud, M.
;
Kleefstra, T.
;
Fryns, J.
;
Ropers, H.
;
Chelly, J.
;
Moraine, C.
;
Gecz, J.
;
van Reeuwijk, J.
;
Nabuurs, S.
;
de Vries, B.
;
Hamel, B.
;
de Brouwer, A.
;
van Bokhoven, H.
2010
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families
Hynes, K.
;
Tarpey, P.
;
Dibbens, L.
;
Bayly, M.
;
Berkovic, S.
;
Smith, R.
;
Al Raisi, Z.
;
Turner, S.
;
Brown, N.
;
Desai, T.
;
Haan, E.
;
Turner, G.
;
Christodoulou, J.
;
Leonard, H.
;
Gill, D.
;
Stratton, M.
;
Gecz, J.
;
Scheffer, I.
Discover
Author
17
Gecz, J.
11
et al.
5
Kalscheuer, V.
5
Ropers, H.
5
Tarpey, P.
4
Chelly, J.
4
van Bokhoven, H.
3
Christodoulou, J.
3
Corbett, M.
3
Edkins, S.
.
next >
Subject
27
Humans
17
Amino Acid Sequence
17
Base Sequence
17
Male
15
Pedigree
13
Female
12
Animals
11
Mental Retardation, X-Linked
7
Child
7
Intellectual Disability
.
next >
Date issued
7
2010 - 2012
18
2000 - 2009
3
1996 - 1999