E-LIB Suche - Ergebnisse für: Bourillon, Agnès

1

SLC13A3 variants cause acute reversible leukoencephalopathy..:

Dewulf, Joseph P. ; Wiame, Elsa ; Dorboz, Imen...
Annals of Neurology. 85 (2019) 3 - p. 385-395 , 2019

2

Mitochondrial acetoacetyl‐CoA thiolase deficiency: basal ga..:

Paquay, Stéphanie ; Bourillon, Agnès ; Pichard, Samia...
Journal of Inherited Metabolic Disease. 40 (2017) 3 - p. 415-422 , 2017

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

3

Transient neonatal renal failure and massive polyuria in ME..:

Harbulot, Carole ; Paquay, Stéphanie ; Dorboz, Imen...
Molecular Genetics and Metabolism Reports. 7 (2016) - p. 8-10 , 2016

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

4

QIL1 mutation causes MICOS disassembly and early onset fata..:

Guarani, Virginia ; Jardel, Claude ; Chrétien, Dominique...
eLife. 5 (2016) - p. , 2016

Link: https://doi.org/10.7554/..

5

A Large French Case-Control Study Emphasizes the Role of Ra..:

Hu, Hui-Han ; Benfodda, Mériem ; Dumaz, Nicolas...
BioMed Research International. 2014 (2014) - p. 1-10 , 2014

Link: https://doi.org/10.1155/..

6

Correlation of Phenotype/Genotype in a Cohort of 23 Xeroder..:

Opletalova, Kristina ; Bourillon, Agnès ; Yang, Wei...
Human Mutation. 35 (2013) 1 - p. 117-128 , 2013

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

7

Genetic variation at KIT locus may predispose to melanoma:

Bourillon, Agnes ; Hu, Hui‐Han ; Hetet, Gilles...
Pigment Cell & Melanoma Research. 26 (2012) 1 - p. 88-96 , 2012

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

8

Assessment of tyrosinase variants and skin cancer risk in a..:

Hu, Hui-Han ; Guedj, Mickael ; Descamps, Vincent...
Journal of Dermatological Science. 64 (2011) 2 - p. 127-133 , 2011

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

9

Variants of the xeroderma pigmentosum variant gene (POLH) a..:

Di Lucca, Julie ; Guedj, Mickael ; Lacapère, Jean-Jacques...
European Journal of Cancer. 45 (2009) 18 - p. 3228-3236 , 2009

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

10

Variants of theMATP/SLC45A2gene are protective for melanoma..:

Guedj, Mickaël ; Bourillon, Agnès ; Combadières, Christophe...
Human Mutation. 29 (2008) 9 - p. 1154-1160 , 2008

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

11

Association Between Endothelin Receptor B Nonsynonymous Var..:

Soufir, Nadem ; Meziani, Roubila ; Lacapère, Jean-Jacques...
JNCI: Journal of the National Cancer Institute. 97 (2005) 17 - p. 1297-1301 , 2005

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

12

SLC13A3 variants cause acute reversible leukoencephalopathy..:

Dewulf, Joseph ; Wiame, Elsa ; Dorboz, Imen...
boreal:216795. , 2019

Link: http://hdl.handle.net/20..

13

SLC13A3 variants cause acute reversible leukoencephalopathy..:

Dewulf, Joseph ; Wiame, Elsa ; Dorboz, Imen...
boreal:216795. , 2019

Link: http://hdl.handle.net/20..

14

SLC13A3 variants cause acute reversible leukoencephalopathy..:

Dewulf, Joseph ; Wiame, Elsa ; Dorboz, Imen...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ana.25412. , 2019

Link: https://hal.archives-ouv..

15

SLC13A3 variants cause acute reversible leukoencephalopathy..:

Dewulf, Joseph ; Wiame, Elsa ; Dorboz, Imen...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ana.25412. , 2019

Link: https://hal.science/hal-..