E-LIB Suche - Ergebnisse für: Goujon, Louise

1

Genetic landscape of pediatric acute liver failure of indet..:

Lenz, Dominic ; Schlieben, Lea D. ; Shimura, Masaru...
Hepatology. 79 (2023) 5 - p. 1075-1087 , 2023

2

Association between acute complications in PMM2-CDG patient..:

Wicker, Camille ; Roux, Charles-Joris ; Goujon, Louise...
Molecular Genetics and Metabolism. 140 (2023) 3 - p. 107674 , 2023

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

3

Expanding the phenotype of GTF2E2‐associated trichothiodyst..:

Sperelakis‐Beedham, Brian ; Ruaud, Lyse ; Vial, Yoann...
Journal of the European Academy of Dermatology and Venereology. 38 (2023) 3 - p. , 2023

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

4

Correction to: Clinical spectrum of MTOR-related hypomelano..:

Carmignac, Virginie ; Mignot, Cyril ; Blanchard, Emmanuelle...
Genetics in Medicine. 23 (2021) 8 - p. 1585 , 2021

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

5

Clinical spectrum of MTOR-related hypomelanosis of Ito with..:

Carmignac, Virginie ; Mignot, Cyril ; Blanchard, Emmanuelle...
Genetics in Medicine. 23 (2021) 8 - p. 1484-1491 , 2021

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

6

Pathogenic variants in SQOR encoding sulfide:quinone oxidor..:

Friederich, Marisa W. ; Elias, Abdallah F. ; Kuster, Alice...
Journal of Inherited Metabolic Disease. 43 (2020) 5 - p. 1024-1036 , 2020

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

7

Lessons from two series by physicians and caregivers' self‐..:

Ruault, Valentin ; Burger, Pauline ; Gradels‐Hauguel, Johanna...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10801341/. , 2024

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

8

Genetic landscape of pediatric acute liver failure of indet..:

Lenz, Dominic ; Schlieben, Lea D ; Shimura, Masaru...
https://boris.unibe.ch/189117/. , 2023

Link: https://boris.unibe.ch/1..

9

Genetic landscape of pediatric acute liver failure of indet..:

Lenz, Dominic ; Schlieben, Lea ; Shimura, Masaru...
info:eu-repo/semantics/altIdentifier/doi/10.1097/HEP.0000000000000684. , 2023

Link: https://hal.inrae.fr/hal..

10

Genetic landscape of pediatric acute liver failure of indet..:

Lenz, Dominic ; Schlieben, Lea ; Shimura, Masaru...
info:eu-repo/semantics/altIdentifier/doi/10.1097/HEP.0000000000000684. , 2023

Link: https://hal.inrae.fr/hal..

11

Gene Editing Corrects In Vitro a G > A GLB1 Transition from..:

Leclerc, Delphine ; Goujon, Louise ; Jaillard, Sylvie...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9986017/. , 2023

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

12

Clinical spectrum of MTOR-related hypomelanosis of Ito with..:

Carmignac, Virginie ; Mignot, Cyril ; Blanchard, Emmanuelle...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41436-021-01161-6. , 2021

Link: https://uca.hal.science/..

13

Clinical spectrum of MTOR-related hypomelanosis of Ito with..:

Carmignac, Virginie ; Mignot, Cyril ; Blanchard, Emmanuelle...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41436-021-01161-6. , 2021

Link: https://uca.hal.science/..

14

Clinical spectrum of MTOR-related hypomelanosis of Ito with..:

Carmignac, Virginie ; Mignot, Cyril ; Blanchard, Emmanuelle...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41436-021-01161-6. , 2021

Link: https://uca.hal.science/..

15

Clinical spectrum of MTOR-related hypomelanosis of Ito with..:

Carmignac, Virginie ; Mignot, Cyril ; Blanchard, Emmanuelle...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8354853/. , 2021

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