E-LIB Suche - Ergebnisse für: Bonnefont, Jean-Paul

1

Novel ELAC2 Mutations in Individuals Presenting with Variab..:

Cafournet, Cérane ; Zanin, Sofia ; Guimier, Anne...
Life. 13 (2023) 2 - p. 445 , 2023

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

2

A retrospective study on the efficacy of prenatal diagnosis..:

Steffann, Julie ; Monnot, Sophie ; Magen, Maryse...
Genetics in Medicine. 23 (2021) 4 - p. 720-731 , 2021

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

3

Mitochondrial DNA mutations do not impact early human embry..:

Chatzovoulou, Kalliopi ; Mayeur, Anne ; Gigarel, Nadine...
Mitochondrion. 58 (2021) - p. 59-63 , 2021

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

4

Altered expression of fragile X mental retardation-1 (FMR1)..:

Thomas, Scott ; Fayet, Odessa-Maud ; Truffault, Frédérique...
Journal of Neuroinflammation. 18 (2021) 1 - p. , 2021

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

5

Biallelic IARS2 mutations presenting as sideroblastic anemi:

Barcia, Giulia ; Pandithan, Dinusha ; Ruzzenente, Benedetta...
Haematologica. , 2020

Link: https://doi.org/10.3324/..

6

Syndrome de Rett associé à une hétérotopie nodulaire périve..:

Saadi, Abdelkrim ; Khedoud, Wahiba Amer El ; Lougani, Saadia...
Revue Neurologique. 176 (2020) - p. S50-S51 , 2020

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

7

Novel FARS2 variants in patients with early onset encephalo..:

Barcia, Giulia ; Rio, Marlène ; Assouline, Zahra...
European Journal of Human Genetics. 29 (2020) 3 - p. 533-538 , 2020

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

8

Evidence of diaphragmatic dysfunction with severe alveolar ..:

Barcia, Giulia ; Khirani, Sonia ; Amaddeo, Alessandro...
Neuromuscular Disorders. 30 (2020) 7 - p. 593-598 , 2020

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

9

PRPS1 loss-of-function variants, from isolated hearing loss..:

Mercati, Oriane ; Abi Warde, Marie-Thérèse ; Lina-Granade, Geneviève...
European Journal of Medical Genetics. 63 (2020) 11 - p. 104033 , 2020

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

10

Searching for secondary findings: considering actionability..:

Isidor, Bertrand ; Julia, Sophie ; Saugier-Veber, Pascale...
European Journal of Human Genetics. 27 (2019) 10 - p. 1481-1484 , 2019

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

11

Mitochondrial myopathy plus due to the variant m.586G > A i..:

Barcia, Giulia ; Assouline, Zahra ; Pennisi, Alessandra...
Molecular Genetics and Metabolism Reports. 21 (2019) - p. 100522 , 2019

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

12

Clinical utility gene card: for incontinentia pigmenti:

Fusco, Francesca ; Pescatore, Alessandra ; Steffann, Julie...
European Journal of Human Genetics. 27 (2019) 12 - p. 1894-1900 , 2019

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

13

Cytochrome c oxidase deficiency caused by biallelic SCO2 mu..:

Barcia, Giulia ; Assouline, Zahra ; Pennisi, Alessandra...
Molecular Genetics and Metabolism Reports. 21 (2019) - p. 100528 , 2019

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

14

Expanding the clinical spectrum of MTTF mutations:

Barcia, Giulia ; Assouline, Zahra ; Pennisi, Alessandra...
Molecular Genetics and Metabolism Reports. 21 (2019) - p. 100501 , 2019

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

15

Rhabdomyolyses en rapport avec des déficits de la bêta-oxyd..:

Vledouts, Serafima ; Brisset, Marion ; Acquaviva-Bourdain, Cécile...
Revue Neurologique. 174 (2018) - p. S119 , 2018

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