E-LIB Suche - Ergebnisse für: Chaoui, Asma

1

Subnuclear re-localization of SOX10 and p54NRB correlates w..:

Chaoui, Asma ; Kavo, Anthula ; Baral, Viviane...
Human Molecular Genetics. 24 (2015) 17 - p. 4933-4947 , 2015

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

2

An Impairment of Long Distance SOX10 Regulatory Elements Un..:

Lecerf, Laure ; Kavo, Anthula ; Ruiz-Ferrer, Macarena...
Human Mutation. 35 (2014) 3 - p. 303-307 , 2014

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

3

Phenotypic similarities and differences in patients with a ..:

Pingault, Veronique ; Pierre‐Louis, Laurence ; Chaoui, Asma...
American Journal of Medical Genetics Part A. 164 (2014) 9 - p. 2344-2350 , 2014

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

4

Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome..:

Pingault, Veronique ; Bodereau, Virginie ; Baral, Viviane...
The American Journal of Human Genetics. 92 (2013) 5 - p. 707-724 , 2013

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

5

Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a Pred..:

Jannot, Anne-Sophie ; Pelet, Anna ; Henrion-Caude, Alexandra...
PLoS ONE. 8 (2013) 5 - p. e62519 , 2013

Link: https://doi.org/10.1371/..

6

Combined Computational-Experimental Analyses ofCFTRExon Str..:

Aissat, Abdel ; de Becdelièvre, Alix ; Golmard, Lisa...
Human Mutation. 34 (2013) 6 - p. 873-881 , 2013

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

7

Screening of MITF and SOX10 Regulatory Regions in Waardenbu..:

Baral, Viviane ; Chaoui, Asma ; Watanabe, Yuli...
PLoS ONE. 7 (2012) 7 - p. e41927 , 2012

Link: https://doi.org/10.1371/..

8

Identification and functional analysis ofSOX10missense muta..:

Chaoui, Asma ; Watanabe, Yuli ; Touraine, Renaud...
Human Mutation. 32 (2011) 12 - p. 1436-1449 , 2011

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

9

Phenotypic similarities and differences in patients with a ..:

Pingault, Veronique ; Pierre-Louis, Laurence ; Chaoui, Asma...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.a.36612. , 2014

Link: https://inserm.hal.scien..

10

Phenotypic similarities and differences in patients with a ..:

Pingault, Veronique ; Pierre-Louis, Laurence ; Chaoui, Asma...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.a.36612. , 2014

Link: https://inserm.hal.scien..

11

Phenotypic similarities and differences in patients with a ..:

Pingault, Veronique ; Pierre-Louis, Laurence ; Chaoui, Asma...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.a.36612. , 2014

Link: https://inserm.hal.scien..

12

Phenotypic similarities and differences in patients with a ..:

Pingault, Veronique ; Pierre-Louis, Laurence ; Chaoui, Asma...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.a.36612. , 2014

Link: https://www.hal.inserm.f..

13

Combined Computational-Experimental Analyses of CFTR Exon S..:

Aissat, Abdel ; de Becdelièvre, Alix ; Golmard, Lisa...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.22300. , 2013

Link: https://inserm.hal.scien..

14

Loss-of-function mutations in SOX10 cause Kallmann syndrome..:

Pingault, Veronique ; Bodereau, Virginie ; Baral, Viviane...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2013.03.024. , 2013

Link: https://www.hal.inserm.f..

15

Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a Pred..:

Jannot, A-S. (Anne-Sophie) ; Pelet, A. (Anna) ; Henrion-Caude, A. (Alexandra)...
http://repub.eur.nl/pub/69591. , 2013

Link: http://repub.eur.nl/pub/..