E-LIB Suche - Ergebnisse für: Magdelaine, Corinne

1

The First Large Deletion of ATL3 Identified in a Patient Pr..:

Pyromali, Ioanna ; Richard, Laurence ; Derouault, Paco...
Biomedicines. 11 (2023) 6 - p. 1565 , 2023

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

2

HINT1neuropathy: Expanding the genotype and phenotype spect..:

Morel, Victor ; Campana‐Salort, Emmanuelle ; Boyer, Amandine...
Clinical Genetics. 102 (2022) 5 - p. 379-390 , 2022

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

3

From Negative to Positive Diagnosis: Structural Variation C..:

Pyromali, Ioanna ; Benslimane, Nesrine ; Favreau, Frédéric...
Journal of Personalized Medicine. 12 (2022) 2 - p. 212 , 2022

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

4

A National French Consensus on Gene List for the Diagnosis ..:

Benquey, Thibaut ; Pion, Emmanuelle ; Cossée, Mireille...
Genes. 13 (2022) 2 - p. 318 , 2022

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

5

Early Diagnosis in Cerebellar Ataxia, Neuropathy, Vestibula..:

Magy, Laurent ; Chazelas, Pauline ; Richard, Laurence...
Biomedicines. 10 (2022) 8 - p. 2046 , 2022

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

6

New structural variations responsible for Charcot-Marie-Too..:

Pyromali, Ioanna ; Perani, Alexandre ; Nizou, Angélique...
Computational and Structural Biotechnology Journal. 19 (2021) - p. 4265-4272 , 2021

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

7

GDAP1 Involvement in Mitochondrial Function and Oxidative S..:

Miressi, Federica ; Benslimane, Nesrine ; Favreau, Frédéric...
Biomedicines. 9 (2021) 8 - p. 945 , 2021

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

8

Clinical features of homozygous FIG4‐p.Ile41Thr Charcot‐Mar..:

Lafontaine, Maxime ; Lia, Anne‐Sophie ; Bourthoumieu, Sylvie...
Annals of Clinical and Translational Neurology. 8 (2021) 2 - p. 471-476 , 2021

Link: https://doi.org/10.1002/..

9

One Multilocus Genomic Variation Is Responsible for a Sever..:

Miressi, Federica ; Magdelaine, Corinne ; Cintas, Pascal...
Brain Sciences. 10 (2020) 12 - p. 986 , 2020

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

10

ATP7A mutation with occipital horns and distal motor neurop..:

Fradin, Melanie ; Lavillaureix, Alinoe ; Jaillard, Sylvie...
European Journal of Medical Genetics. 63 (2020) 12 - p. 104087 , 2020

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

11

CovCopCan: An efficient tool to detect Copy Number Variatio..:

Derouault, Paco ; Chauzeix, Jasmine ; Rizzo, David...
PLOS Computational Biology. 16 (2020) 2 - p. e1007503 , 2020

Link: https://doi.org/10.1371/..

12

A mutation can hide another one: Think Structural Variants!:

Miressi, Federica ; Faye, Pierre-Antoine ; Pyromali, Ioanna...
Computational and Structural Biotechnology Journal. 18 (2020) - p. 2095-2099 , 2020

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

13

Clinical characteristics of familial hypocalciuric hypercal..:

Mouly, Céline ; Vargas‐Poussou, Rosa ; Lienhardt, Anne...
Clinical Endocrinology. 93 (2020) 3 - p. 248-260 , 2020

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

14

Spinal muscular atrophy with respiratory distress type 1: A..:

Viguier, Agnès ; Lauwers-Cances, Valérie ; Cintas, Pascal...
Neuromuscular Disorders. 29 (2019) 2 - p. 114-126 , 2019

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

15

New PRPS1 variant p.(Met68Leu) located in the dimerization ..:

Lerat, Justine ; Magdelaine, Corinne ; Derouault, Paco...
Molecular Genetics & Genomic Medicine. 7 (2019) 9 - p. , 2019

Link: https://doi.org/10.1002/..