E-LIB Suche - Ergebnisse für: Ravel, Jean-Marie

1

Étude des troubles cognitifs dans une cohorte de 20 patient..:

Miroglio, Raphaël ; Hocquel, Armand ; Ravel, Jean-Marie...
Revue Neurologique. 180 (2024) - p. S72-S73 , 2024

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

2

Clinical utility of periodic reinterpretation of CNVs of un..:

Ravel, Jean-Marie ; Renaud, Mathilde ; Muller, Jean...
Genome Medicine. 15 (2023) 1 - p. , 2023

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

3

Heterozygous pathogenic variation in GCH1 associated with t..:

Ravel, Jean-Marie ; Michaud, Maud ; Frismand, Solène...
Parkinsonism & Related Disorders. 109 (2023) - p. 105310 , 2023

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

4

Évaluation du panel épilepsie-déficience intellectuelle pou..:

Deniaud, Pauline ; Todosi, Calina ; Bonnet, Céline...
Revue Neurologique. 178 (2022) - p. S50-S51 , 2022

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

5

Reduced penetrance of an eastern French mutation in ATL1 au..:

Hocquel, Armand ; Ravel, Jean-Marie ; Lambert, Laetitia...
neurogenetics. 23 (2022) 4 - p. 241-255 , 2022

Link: https://doi.org/10.1007/..

6

Extension du spectre clinique de l'ataxie associée aux vari..:

Ravel, Jean-Marie ; Benkirane, Mehdi ; Calmels, Nadège...
Revue Neurologique. 177 (2021) - p. S53 , 2021

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

7

Expanding the clinical spectrum of STIP1 homology and U-box..:

Ravel, Jean-Marie ; Benkirane, Mehdi ; Calmels, Nadège...
Journal of Neurology. 268 (2021) 5 - p. 1927-1937 , 2021

Link: https://doi.org/10.1007/..

8

High rate of hypomorphic variants as the cause of inherited..:

Benkirane, Mehdi ; Marelli, Cecilia ; Guissart, Claire...
Genetics in Medicine. 23 (2021) 11 - p. 2160-2170 , 2021

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

9

Pénétrance incomplète et phénotype clinique étendu dans une..:

Hocquel, Armand ; Ravel, Jean-Marie ; Renaud, Mathilde.
Revue Neurologique. 177 (2021) - p. S54 , 2021

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

10

Diagnostic yield of clinical exome sequencing as a first-ti..:

Mergnac, Jean-Philippe ; Wiedemann, Arnaud ; Chery, Céline...
Human Genetics. 141 (2021) 7 - p. 1269-1278 , 2021

Link: https://doi.org/10.1007/..

11

Comprehensive Map of the Regulated Cell Death Signaling Net..:

Ravel, Jean-Marie ; Monraz Gomez, L. Cristobal ; Sompairac, Nicolas...
Cancers. 12 (2020) 4 - p. 990 , 2020

Link: https://doi.org/10.3390/..

12

Application of Atlas of Cancer Signalling Network in precli..:

Monraz Gomez, L Cristobal ; Kondratova, Maria ; Ravel, Jean-Marie...
Briefings in Bioinformatics. 20 (2018) 2 - p. 701-716 , 2018

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

13

Next-generation sequencing: a decisive diagnostic aid for a..:

Jardel, Amory ; Bonnet, Céline ; Frismand-Kryloff, Solène...
Journal of Neurology. 269 (2022) 12 - p. 6664-6666 , 2022

Link: https://doi.org/10.1007/..

14

Clinical utility of periodic reinterpretation of CNVs of un..:

Ravel, Jean-Marie ; Renaud, Mathilde ; Muller, Jean...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10204260/. , 2023

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

15

Expanding the clinical spectrum of STIP1 homology and U-box..:

Ravel, Jean-Marie ; Benkirane, Mehdi ; Calmels, Nadège...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s00415-020-10348-x. , 2021

Link: https://hal.science/hal-..