Ich stimme zu, dass diese Seite Cookies verwende. Weitere Informationen finden Sie unter unseren Datenschutzerklärungen .
X
Sarah Snanoudj
69  Ergebnisse:
Personensuche X
?
1

New insights and potential biomarkers for intraventricular ..:

Ducatez, Franklin ; Tebani, Abdellah ; Abily-Donval, Lenaig...
Pediatric Research.  , 2024
Link: https://doi.org/10.1038/..
 
?
2

Neuronal ceroïd‐lipofuscinosis: Clinical, electroencephalog..:

Ben Younes, Thouraya ; Kraoua, Ichraf ; Snanoudj, Sarah...
Clinical Genetics.  102 (2022)  2 - p. 157-160 , 2022
Link: https://doi.org/10.1111/..
 
?
3

Analysis of Enzyme Activity and Cellular Function for the N..:

Staklinski, Stephen J. ; Snanoudj, Sarah ; Guerrot, Anne-Marie...
International Journal of Molecular Sciences.  24 (2022)  1 - p. 559 , 2022
Link: https://doi.org/10.3390/..
 
?
4

NGLY1 Deficiency: A Rare Newly Described Condition with a T..:

Dabaj, Ivana ; Sudrié-Arnaud, Bénédicte ; Lecoquierre, François...
Life.  11 (2021)  3 - p. 187 , 2021
Link: https://doi.org/10.3390/..
 
?
5

Heterogenous Clinical Landscape in a Consanguineous Malonic..:

Snanoudj, Sarah ; Torre, Stéphanie ; Sudrié-Arnaud, Bénédicte...
International Journal of Molecular Sciences.  22 (2021)  23 - p. 12633 , 2021
Link: https://doi.org/10.3390/..
 
?
6

An Unusual Peak in a Common Clinical Presentation:

Sudrié-Arnaud, Bénédicte ; Snanoudj, Sarah ; Imbard, Apolline..
Clinical Chemistry.  67 (2021)  5 - p. 799-801 , 2021
Link: https://doi.org/10.1093/..
 
?
7

Large-scale screening of lipase acid deficiency in at risk ..:

Tebani, Abdellah ; Sudrié-Arnaud, Bénédicte ; Boudabous, Hela...
Clinica Chimica Acta.  519 (2021)  - p. 64-69 , 2021
Link: https://doi.org/10.1016/..
 
?
8

An Atypical Case of Congenital Erythropoietic Porphyria:

Sudrié-Arnaud, Bénédicte ; Legendre, Marine ; Snanoudj, Sarah...
Genes.  12 (2021)  11 - p. 1828 , 2021
Link: https://doi.org/10.3390/..
 
?
9

Next-Generation Molecular Investigations in Lysosomal Disea..:

Sudrié-Arnaud, Bénédicte ; Snanoudj, Sarah ; Dabaj, Ivana...
Diagnostics.  11 (2021)  2 - p. 294 , 2021
Link: https://doi.org/10.3390/..
 
?
10

Identification of a novel splice site mutation in the SERAC..:

Snanoudj, Sarah ; Mordel, Patrick ; Dupas, Quentin...
Molecular Genetics & Genomic Medicine.  7 (2019)  8 - p. , 2019
Link: https://doi.org/10.1002/..
 
?
11

Maternal Transmission Ratio Distortion of GNAS Loss-of-Func..:

Snanoudj, Sarah ; Molin, Arnaud ; Colson, Cindy...
Journal of Bone and Mineral Research.  35 (2019)  5 - p. 913-919 , 2019
Link: https://doi.org/10.1002/..
 
?
12

Analysis of Enzyme Activity and Cellular Function for the N..:

Stephen J. Staklinski ; Sarah Snanoudj ; Anne-Marie Guerrot...
Molecular Endocrinology and Metabolism.  , 2022
Link: https://doi.org/10.3390/..
 
?
13

Analysis of Enzyme Activity and Cellular Function for the N..:

Stephen J. Staklinski ; Sarah Snanoudj ; Anne-Marie Guerrot...
https://www.mdpi.com/1422-0067/24/1/559.  , 2022
Link: https://doi.org/10.3390/..
 
?
14

Next-Generation Molecular Investigations in Lysosomal Disea..:

Bénédicte Sudrié-Arnaud ; Sarah Snanoudj ; Ivana Dabaj...
https://www.mdpi.com/2075-4418/11/2/294.  , 2021
Link: https://doi.org/10.3390/..
 
?
15

Heterogenous Clinical Landscape in a Consanguineous Malonic..:

Sarah Snanoudj ; Stéphanie Torre ; Bénédicte Sudrié-Arnaud...
https://www.mdpi.com/1422-0067/22/23/12633.  , 2021
Link: https://doi.org/10.3390/..
 
1-15