E-LIB Suche - Ergebnisse für: Bonneau-Amati, Patrizia

1

Tubulopathy and pancytopaenia with normal pancreatic functi..:

Atale, Agnès ; Bonneau-Amati, Patrizia ; Rötig, Agnès...
European Journal of Medical Genetics. 52 (2009) 1 - p. 23-26 , 2009

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

2

Genetic susceptibility to optic neuropathy in patients with..:

Delibes, Camille ; Ferré, Marc ; Rozet, Marine...
Journal of Translational Medicine. 22 (2024) 1 - p. , 2024

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

3

Next-Generation Sequencing Identifies Novel PMPCA Variants ..:

Charif, Majida ; Chevrollier, Arnaud ; Gueguen, Naïg...
Genes. 13 (2022) 7 - p. 1202 , 2022

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

4

Contributors:

, In: Clinical Ophthalmic Genetics and Genomics,

Aleman, Tomas S. ; Amati-Bonneau, Patrizia ; Arveiler, Benoît... - p. xi-xiv , 2022

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

5

Next-generation sequencing of Tunisian Leigh syndrome patie..:

Hechmi, Meriem ; Charif, Majida ; Kraoua, Ichraf...
Bioscience Reports. 42 (2022) 9 - p. , 2022

Link: https://doi.org/10.1042/..

6

Pathogenic NR2F1 variants cause a developmental ocular phen..:

Jurkute, Neringa ; Bertacchi, Michele ; Arno, Gavin...
Brain Communications. 3 (2021) 3 - p. , 2021

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

7

Use of Next-Generation Sequencing for the Molecular Diagnos..:

Charif, Majida ; Bris, Céline ; Goudenège, David...
Frontiers in Neurology. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

8

Improved detection of mitochondrial DNA instability in mito..:

Bris, Celine ; Goudenège, David ; Desquiret-Dumas, Valerie...
Genetics in Medicine. 23 (2021) 9 - p. 1769-1778 , 2021

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

9

Dominant mutations in MIEF1 affect mitochondrial dynamics a..:

Charif, Majida ; Wong, Yvette C. ; Kim, Soojin...
Molecular Neurodegeneration. 16 (2021) 1 - p. , 2021

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

10

A plasma metabolomic signature of Leber hereditary optic ne..:

Bocca, Cinzia ; Le Paih, Victor ; Chao de la Barca, Juan Manuel...
Human Molecular Genetics. 30 (2021) 1 - p. 21-29 , 2021

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

11

ACO2 clinicobiological dataset with extensive phenotype ont..:

Guehlouz, Khadidja ; Foulonneau, Thomas ; Amati-Bonneau, Patrizia...
Scientific Data. 8 (2021) 1 - p. , 2021

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

12

Mutations in aARS genes revealed by targeted next-generatio..:

Felhi, Rahma ; Charif, Majida ; Sfaihi, Lamia...
Molecular Biology Reports. 47 (2020) 5 - p. 3779-3787 , 2020

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

13

A ROD–CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RT..:

Meunier, Isabelle ; Bocquet, Béatrice ; Charif, Majida...
Retina. 41 (2020) 8 - p. 1771-1779 , 2020

Link: https://doi.org/10.1097/..

14

First characterization of LHON pedigrees in North Africa:

Bouzidi, Aymane ; Aboussair, Nisrine ; Charif, Majida...
Eye. 34 (2020) 11 - p. 2138-2139 , 2020

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

15

Warburg-like effect is a hallmark of complex I assembly def..:

Desquiret-Dumas, Valerie ; Leman, Geraldine ; Wetterwald, Celine...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1865 (2019) 9 - p. 2475-2489 , 2019

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