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Journal Articles by J. W. Norris
Y.-R. Lee
,
K. Khan
,
K. Armfield-Uhas
,
S. Srikanth
,
N. A. Thompson
,
M. Pardo
,
L. Yu
,
J. W. Norris
,
et al.
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy
Nature communications,
11
(1), 1-17, 2020
RIS
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BibTex
C. J. Spellicy
,
J. Norris
,
R. Bend
,
C. Bupp
,
P. Mester
,
T. Reynolds
,
J. Dean
,
Y. Peng
,
et al.
Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects
European Journal of Human Genetics,
26
(3), 420-427, 2018
RIS
,
BibTex
Y. Peng
,
J. Norris
,
C. Schwartz
, and
E. Alexov
Revealing the effects of missense mutations causing Snyder-Robinson syndrome on the stability and dimerization of spermine synthase
International journal of molecular sciences,
17
(1), 77, 2016
RIS
,
BibTex
Z. Zhang
,
J. Norris
,
V. Kalscheuer
,
T. Wood
,
L. Wang
,
C. Schwartz
,
E. Alexov
, and
H. V. Esch
A Y328C missense mutation in spermine synthase causes a mild form of Snyder--Robinson syndrome
Human molecular genetics,
22
(18), 3789-3797, 2013
RIS
,
BibTex
Z. Zhang
,
J. Norris
,
C. Schwartz
, and
E. Alexov
In Silico and In Vitro Investigations of the Mutability of Disease-Causing Missense Mutation Sites in
2011
RIS
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BibTex
Z. Zhang
,
J. Norris
,
C. Schwartz
, and
E. Alexov
In silico and in vitro investigations of the mutability of disease-causing missense mutation sites in spermine synthase
PloS one,
6
(5), e20373, 2011
RIS
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BibTex
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