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Mademan, Inès
17
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Online (17)
Mediatypes
Articles (Online) (11)
OpenAccess-fulltext (6)
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1
Characterization of HNRNPA1 mutations defines diversity in ..:
Beijer, Danique
;
Kim, Hong Joo
;
Guo, Lin
...
JCI Insight. 6 (2021) 14 - p. , 2021
Link:
https://doi.org/10.1172/..
?
2
Cover Image, Volume 39, Issue 3:
Abbott, Jamie A.
;
Meyer-Schuman, Rebecca
;
Lupo, Vincenzo
...
Human Mutation. 39 (2018) 3 - p. i-i , 2018
Link:
https://doi.org/10.1002/..
?
3
Substrate interaction defects in histidyl-tRNA synthetase l..:
Abbott, Jamie A.
;
Meyer-Schuman, Rebecca
;
Lupo, Vincenzo
...
Human Mutation. 39 (2017) 3 - p. 415-432 , 2017
Link:
https://doi.org/10.1002/..
?
4
A recurrent WARS mutation is a novel cause of autosomal dom..:
Tsai, Pei-Chien
;
Soong, Bing-Wen
;
Mademan, Inès
...
Brain. 140 (2017) 5 - p. 1252-1266 , 2017
Link:
https://doi.org/10.1093/..
?
5
MultisystemicSYNE1ataxia: confirming the high frequency and..:
Mademan, Inès
;
Harmuth, Florian
;
Giordano, Ilaria
...
Brain. 139 (2016) 8 - p. e46-e46 , 2016
Link:
https://doi.org/10.1093/..
?
6
A novelAARSmutation in a family with dominant myeloneuropat..:
Motley, William W.
;
Griffin, Laurie B.
;
Mademan, Inès
...
Neurology. 84 (2015) 20 - p. 2040-2047 , 2015
Link:
https://doi.org/10.1212/..
?
7
Aggregates of Mutant DNMT1 Are Linked to a Spectrum of Neur..:
Baets, Jonathan
;
Duan, Xiaohui
;
Wu, Yanhong
...
Neurology. 84 (2015) 14_supplement - p. , 2015
Link:
https://doi.org/10.1212/..
?
8
Defects of mutant DNMT1 are linked to a spectrum of neurolo..:
Baets, Jonathan
;
Duan, Xiaohui
;
Wu, Yanhong
...
Brain. 138 (2015) 4 - p. 845-861 , 2015
Link:
https://doi.org/10.1093/..
?
9
Sensory neuropathy with bone destruction due to a mutation ..:
Kornak, Uwe
;
Mademan, Inès
;
Schinke, Marte
...
Brain. 137 (2014) 3 - p. 683-692 , 2014
Link:
https://doi.org/10.1093/..
?
10
A novel NTRK1 mutation in a patient with congenital insensi..:
Yiş, Uluç
;
Mademan, Inès
;
Kavukçu, Salih
.
Acta Neurologica Belgica. 115 (2014) 3 - p. 509-511 , 2014
Link:
https://doi.org/10.1007/..
?
11
De novoINF2mutations expand the genetic spectrum of heredit..:
Mademan, Inès
;
Deconinck, Tine
;
Dinopoulos, Argirios
...
Neurology. 81 (2013) 22 - p. 1953-1958 , 2013
Link:
https://doi.org/10.1212/..
?
12
Characterization of HNRNPA1 mutations defines diversity in ..:
Beijer, Danique
;
Kim, Hong Joo
;
Guo, Lin
...
https://jdc.jefferson.edu/bmpfp/188. , 2021
Link:
https://jdc.jefferson.ed..
?
13
Characterization of HNRNPA1 mutations defines diversity in ..:
Beijer, Danique
;
Kim, Hong Joo
;
Guo, Lin
...
boreal:261347. , 2021
Link:
http://hdl.handle.net/20..
?
14
Characterization of HNRNPA1 mutations defines diversity in ..:
Beijer, Danique
;
Kim, Hong Joo
;
Guo, Lin
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8410042/. , 2021
Link:
http://www.ncbi.nlm.nih...
?
15
Characterization of HNRNPA1 mutations defines diversity in ..:
Beijer, Danique
;
Kim, Hong Joo
;
Guo, Lin
...
boreal:261347. , 2021
Link:
http://hdl.handle.net/20..
1-15