E-LIB Suche - Ergebnisse für: Goizet, C

1

Noninvasive prenatal diagnosis of genetic diseases induced ..:

Liautard-Haag, C. ; Durif, G. ; VanGoethem, C....
Scientific Reports. 12 (2022) 1 - p. , 2022

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

2

The value of electrocardiogram and echocardiography to dist..:

Junqua, N. ; Legallois, D. ; Segard, S....
Archives of Cardiovascular Diseases Supplements. 13 (2021) 1 - p. 22 , 2021

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

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

Severe Thoracic and Spinal Bone Abnormalities in neurofibro..:

Prudhomme, L. ; Delleci, C. ; Trimouille, A....
European Journal of Medical Genetics. 63 (2020) 4 - p. 103815 , 2020

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

5

Implication of the SH3TC2 gene in Charcot-Marie-Tooth disea..:

Lerat, J. ; Magdelaine, C. ; Lunati, A....
Journal of the Neurological Sciences. 406 (2019) - p. 116376 , 2019

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

6

Truncating variants of the DLG4 gene are responsible for in..:

Moutton, S. ; Bruel, A.‐L. ; Assoum, M....
Clinical Genetics. 93 (2018) 6 - p. 1172-1178 , 2018

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

7

Efficiency of next generation sequencing of a large panel o..:

Lacourt, D. ; Yauy, K. ; Walther-Louvier, U....
Neuromuscular Disorders. 27 (2017) - p. S195 , 2017

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

8

Déficit en sphingomyélinase acide (maladie de Niemann-Pick ..:

Lidove, O. ; Belmatoug, N. ; Froissart, R....
La Revue de Médecine Interne. 38 (2017) 5 - p. 291-299 , 2017

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

9

Further delineation of a rare recessive encephalomyopathy l..:

Nambot, S. ; Gavrilov, D. ; Thevenon, J....
Clinical Genetics. 92 (2017) 2 - p. 188-198 , 2017

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

10

Molecular, clinical and neuropsychological study in 31 pati..:

Lehman, N. ; Mazery, A.C. ; Visier, A....
Clinical Genetics. 92 (2017) 3 - p. 298-305 , 2017

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

11

Efficacy and safety of propranolol for epistaxis in heredit..:

Contis, A. ; Gensous, N. ; Viallard, J.F....
Clinical Otolaryngology. 42 (2017) 4 - p. 911-917 , 2017

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

12

Classifications of neurogenetic diseases: An increasingly c..:

Vallat, J.-M. ; Goizet, C. ; Tazir, M....
Revue Neurologique. 172 (2016) 6-7 - p. 339-349 , 2016

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

13

Efficiency of targeted NGS on myopathies and muscular dystr..:

Zenagui, R. ; Lacourt, D. ; Juntas-Morales, R....
Neuromuscular Disorders. 26 (2016) - p. S161-S162 , 2016

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

14

Intérêt de l'examen des urines à la bandelette en cas de re..:

Bertholet-Thomas, A. ; Llanas, B. ; Servais, A....
Archives de Pédiatrie. 22 (2015) 7 - p. 756-762 , 2015

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

15

Incontinentia pigmenti avec hétérotopie sous-corticale en b..:

Aoun, A. ; Goizet, C. ; Arveiler, B...
Archives de Pédiatrie. 22 (2015) 1 - p. 109-110 , 2015

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