E-LIB Suche - Ergebnisse für: Bonello‐Palot, N.

1

Novel CAPN3 variant associated with an autosomal dominant c..:

Cerino, M. ; Campana‐Salort, E. ; Salvi, A....
Neuropathology and Applied Neurobiology. 46 (2020) 6 - p. 564-578 , 2020

2

Analytical evaluation of the Capillarys 2 Flex piercing for..:

Agouti, I. ; Merono, F. ; Bonello‐Palot, N..
International Journal of Laboratory Hematology. 35 (2012) 2 - p. 217-221 , 2012

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

3

Identification of novel pathogenic copy number variations i..:

Mortreux, J. ; Bacquet, J. ; Boyer, A....
Journal of Human Genetics. 65 (2019) 3 - p. 313-323 , 2019

Link: https://doi.org/10.1038/..

4

Retrospective study of 75 children with peripheral inherite..:

Hoebeke, C. ; Bonello-Palot, N. ; Audic, F....
Archives de Pédiatrie. 25 (2018) 8 - p. 452-458 , 2018

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

5

Le séquençage d'ADN à haut débit en pratique clinique:

Lacoste, C. ; Fabre, A. ; Pécheux, C....
Archives de Pédiatrie. 24 (2017) 4 - p. 373-383 , 2017

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

6

Reply: MFN2, a new gene responsible for mitochondrial DNA d..:

Rouzier, C. ; Serre, V. ; Chaussenot, A....
Brain. 135 (2012) 8 - p. e224-e224 , 2012

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

7

Reply: MFN2 mutations cause compensatory mitochondrial DNA ..:

Rouzier, C. ; Bannwarth, S. ; Chaussenot, A....
Brain. 135 (2012) 8 - p. e220-e220 , 2012

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

8

The MFN2 gene is responsible for mitochondrial DNA instabil..:

Rouzier, C. ; Bannwarth, S. ; Chaussenot, A....
Brain. 135 (2011) 1 - p. 23-34 , 2011

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

9

Genes for hereditary sensory and autonomic neuropathies: a ..:

Rotthier, A. ; Baets, J. ; Vriendt, E. D....
Brain. 132 (2009) 10 - p. 2699-2711 , 2009

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

10

Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 ..:

Wu, Jingxia ; Ma, Sicong ; Sandhoff, Roger...
Immunity. 50 (2019) 5 - p. 1218-1231.e5 , 2019

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

11

Genetic landscape of congenital insensitivity to pain and h..:

Lischka, Annette ; Eggermann, Katja ; Record, Christopher J...
https://discovery.ucl.ac.uk/id/eprint/10181008/1/awad328.pdf. , 2023

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

12

A multicentre retrospective study of Charcot-Marie-Tooth di..:

Pareyson, Davide ; Stojkovic, Tanya ; Reilly, Mary M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6581441/. , 2019

Link: http://www.ncbi.nlm.nih...

13

Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 ..:

Wu, Jingxia ; Ma, Sicong ; Sandhoff, Roger...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6531359/. , 2019

Link: http://www.ncbi.nlm.nih...