E-LIB Suche - Ergebnisse für: Mignot, C.

1

ARID1B-related disorder in 87 adults: natural history and s..:

van der Sluijs, P.J. ; Gösgens, M. ; Dingemans, A.J.M....
Genetics in Medicine Open. , 2024

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

2

SATB2-associated syndrome: characterization of skeletal fea..:

Mouillé, M. ; Rio, M. ; Breton, S....
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

3

Pseudoxanthoma elasticum overlaps hereditary spastic parapl..:

Legrand, A. ; Pujol, C. ; Durand, C. M....
Journal of Internal Medicine. 289 (2021) 5 - p. 709-725 , 2021

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

4

Traitement cérébral des odeurs subliminales : une étude en ..:

Mignot, C. ; Gounot, D. ; Chambaron, S....
Nutrition Clinique et Métabolisme. 33 (2019) 1 - p. 38 , 2019

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

5

NR4A2 haploinsufficiency is associated with intellectual di..:

Lévy, J. ; Grotto, S. ; Mignot, C....
Clinical Genetics. 94 (2018) 2 - p. 264-268 , 2018

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

6

B.02 Recessive mutations in ATP8A2 cause severe hypotonia, ..:

McMillan, HJ ; Telegrafi, A ; Singleton, A...
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 45 (2018) s2 - p. S12-S12 , 2018

Link: https://doi.org/10.1017/..

7

Using medical exome sequencing to identify the causes of ne..:

Chérot, E. ; Keren, B. ; Dubourg, C....
Clinical Genetics. 93 (2017) 3 - p. 567-576 , 2017

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

8

Corpus callosum agenesis with clinically normal people caus..:

Billette de Villemeur, T. ; Valence, S. ; Heron, D....
European Journal of Paediatric Neurology. 21 (2017) - p. e43 , 2017

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

9

ATP1A3 screening in patients with alternating hemiplegia of..:

Panagiotakaki, E. ; Michel, J. ; Doummar, D....
European Journal of Paediatric Neurology. 21 (2017) - p. e162 , 2017

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

10

Natural history of Alexander disease: A multicentric survey..:

Renaldo, F. ; Mignot, C. ; Tonduti, D....
European Journal of Paediatric Neurology. 21 (2017) - p. e162 , 2017

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

11

Next-generation sequencing allows a diagnostic yield of 23...:

Lesca, G. ; Labalme, A. ; Mignot, C....
European Journal of Paediatric Neurology. 21 (2017) - p. e168-e169 , 2017

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

12

A case of fatal Type I congenital disorders of glycosylatio..:

Sabry, S. ; Vuillaumier-Barrot, S. ; Mintet, E....
Orphanet Journal of Rare Diseases. 11 (2016) 1 - p. , 2016

Link: https://doi.org/10.1186/..

13

Whole‐exome sequencing improves the diagnosis yield in spor..:

Dimassi, S. ; Labalme, A. ; Ville, D....
Clinical Genetics. 89 (2015) 2 - p. 198-204 , 2015

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

14

Mutations activatrices de mTOR en mosaïque dans l'hypomélan..:

Vabres, P. ; Parker, V. ; Courcet, J.-B....
Annales de Dermatologie et de Vénéréologie. 142 (2015) 12 - p. S470-S471 , 2015

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

15

Spectre phénotypique de l'ataxie cérébelleuse autosomique r..:

Mignot, C. ; Apartis, E. ; Durr, A....
Revue Neurologique. 170 (2014) - p. A153 , 2014

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