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Results 1-10 of 20 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2008
TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness
Guipponi, M.
;
Antonarakis, S.
;
Scott, H.
2014
Many BCR-ABL1 compound mutations reported in chronic myeloid leukemia patients may actually be artifacts due to PCR-mediated recombination
Parker, W.
;
Phillis, S.
;
Yeung, D.
;
Hughes, T.
;
Scott, H.
;
Branford, S.
2017
Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan Anemia patient
Venugopal, P.
;
Moore, S.
;
Lawrence, D.
;
George, A.
;
Hannan, R.
;
Bray, S.
;
To, L.
;
D Andrea, R.
;
Feng, J.
;
Tirimacco, A.
;
Yeoman, A.
;
Young, C.
;
Fine, M.
;
Schreiber, A.
;
Hahn, C.
;
Barnett, C.
;
Saxon, B.
;
Scott, H.
1997
Mutations among Italian mucopolysaccharidosis Type I patients
Gatti, R.
;
Di Natale, P.
;
Villani, G.
;
Filocamo, M.
;
Muller, V.
;
Guo, X.H.
;
Nelson, P.
;
Scott, H.
;
Hopwood, J.
1995
The molecular genetics of mucopolysaccharidosis type I : Diagnostic, clinical and biological implications
Scott, H.
;
Bunge, S.
;
Gal, A.
;
Clarke, L.
;
Morris, C.
;
Hopwood, J.
2008
An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss
Guipponi, M.
;
Toh, M.
;
Tan, J.
;
Park, D.
;
Hanson, K.
;
Ballana, E.
;
Kwong, D.
;
Cannon, P.
;
Wu, Q.
;
Gout, A.
;
Delorenzi, M.
;
Speed, T.
;
Smith, R.
;
Dahl, H.
;
Petersen, M.
;
Teasdale, R.
;
Estivill, X.
;
Park, W.
;
Scott, H.
2016
Autosomal dominant hypocalcaemia due to a novel CASR mutation: clinical and genetic implications
Gagliardi, L.
;
Burt, M.
;
Feng, J.
;
Poplawski, N.
;
Scott, H.
2010
Poor prognosis in familial acute myeloid leukaemia with combined biallelic CEBPA mutations and downstream events affecting the ATM, FLT3 and CDX2 genes
Carmichael, C.
;
Wilkins, E.
;
Bengtsson, H.
;
Horwitz, M.
;
Speed, T.
;
Vincent, P.
;
Young, G.
;
Hahn, C.
;
Escher, J.
;
Scott, H.
2011
RUNX1 Mutations are rare in chronic phase polycythaemia vera
Butcher, C.
;
Neufing, P.
;
Eriksson, L.
;
Carmichael, C.
;
Wilkins, E.
;
Vaz de Melo, J.
;
Lewis, I.
;
Bardy, P.
;
Scott, H.
;
D'Andrea, R.
2008
AIRE'S CARD revealed, a new structure for the central tolerance provokes transcriptional plasticity
Ferguson, B.
;
Alexander, C.
;
Rossi, S.
;
Liiv, I.
;
Rebane, A.
;
Worth, C.
;
Wong, J.
;
Laan, M.
;
Peterson, P.
;
Jenkinson, E.
;
Anderson, G.
;
Scott, H.
;
Cooke, A.
;
Rich, T.
Discover
Author
5
Hahn, C.
4
Branford, S.
4
Parker, W.
4
Wilkins, E.
3
Carmichael, C.
3
D'Andrea, R.
3
Guipponi, M.
3
Hopwood, J.
3
Hughes, T.
2
Antonarakis, S.
.
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Subject
19
Humans
8
Male
7
Female
5
Child
4
Animals
4
DNA Mutational Analysis
4
Mice
4
Phenotype
3
Child, Preschool
3
Fusion Proteins, bcr-abl
.
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Date issued
13
2010 - 2018
4
2000 - 2009
3
1995 - 1999