E-LIB Suche - Ergebnisse für: Deconinck T

1

Detection of TRIM32 variants associated with LGMD2H in a la..:

Johnson, K. ; Töpf, A. ; Bertoli, M....
Neuromuscular Disorders. 27 (2017) - p. S41 , 2017

Link: https://doi.org/10.1016/..

2

Detection of TRIM32 variants associated with LGMD2H in a la..:

Johnson, K. ; Töpf, A. ; Bertoli, M....
Neuromuscular Disorders. 27 (2017) - p. S142-S143 , 2017

Link: https://doi.org/10.1016/..

3

P25 – 2072 Diagnostic clues and difficulties in Dravet synd..:

Craiu, D ; Barca, D ; Burloiu, C...
European Journal of Paediatric Neurology. 17 (2013) - p. S61 , 2013

Link: https://doi.org/10.1016/..

4

Gene Identification in Axonopathies by Applying Massive Who..:

Zuchner, S. ; Gonzalez, M. ; Schuele, R....
Neurology. 78 (2012) Meeting Abstracts 1 - p. S27.005-S27.005 , 2012

Link: https://doi.org/10.1212/..

5

Genetic spectrum of hereditary neuropathies with onset in t..:

Baets, J. ; Deconinck, T. ; De Vriendt, E....
Brain. 134 (2011) 9 - p. 2664-2676 , 2011

Link: https://doi.org/10.1093/..

6

Mutations inSACScause atypical and late-onset forms of ARSA..:

Baets, J. ; Deconinck, T. ; Smets, K....
Neurology. 75 (2010) 13 - p. 1181-1188 , 2010

Link: https://doi.org/10.1212/..

7

Further evidence that mutations inFGD4/frabincause Charcot-..:

Fabrizi, G. M. ; Taioli, F. ; Cavallaro, T....
Neurology. 72 (2009) 13 - p. 1160-1164 , 2009

Link: https://doi.org/10.1212/..

8

Discretization of the Joule heating term for plasma dischar..:

Deconinck, T. ; Mahadevan, S. ; Raja, L.L.
Journal of Computational Physics. 228 (2009) 12 - p. 4435-4443 , 2009

Link: https://doi.org/10.1016/..

9

Relative contribution of mutations in genes for autosomal d..:

Dierick, I. ; Baets, J. ; Irobi, J....
Brain. 131 (2007) 5 - p. 1217-1227 , 2007

Link: https://doi.org/10.1093/..

10

Spastin gene mutations in Bulgarian patients with hereditar..:

Ivanova, N ; Löfgren, A ; Tournev, I...
Clinical Genetics. 70 (2006) 6 - p. 490-495 , 2006

Link: https://doi.org/10.1111/..

11

Biallelic ADPRHL2 mutations in complex neuropathy affect AD..:

Beijer, D ; Agnew, T ; Rack, JGM...
doi:10.26508/lsa.202101057. , 2021

Link: https://doi.org/10.26508..

12

Erratum: Biallelic variants in HPDL cause pure and complica..:

Wiessner M ; Maroofian R ; Ni M. -Y...
info:eu-repo/semantics/altIdentifier/wos/WOS:000710930500006. , 2021

Link: https://hdl.handle.net/1..

13

Biallelic variants in HPDL cause pure and complicated hered..:

Wiessner M ; Maroofian R ; Ni M. -Y...
info:eu-repo/semantics/altIdentifier/pmid/33970200. , 2021

Link: https://hdl.handle.net/1..

14

Biallelic variants in HPDL cause pure and complicated hered..:

Wiessner, M ; Maroofian, R ; Ni, M-Y...
https://discovery.ucl.ac.uk/id/eprint/10128647/3/Houlden_BRAIN%202020-01588_manuscript_R1_plain%20copy.pdf. , 2021

Link: https://discovery.ucl.ac..

15

Biallelic VARS variants cause developmental encephalopathy ..:

Siekierska A ; Stamberger H ; Deconinck T...
info:eu-repo/semantics/altIdentifier/wos/WOS:000458398900002. , 2019

Link: http://hdl.handle.net/11..