E-LIB Suche - Ergebnisse für: Cartault, François

1

Clinical and genomic delineation of the new proximal 19p13...:

Jouret, Guillaume ; Egloff, Matthieu ; Landais, Emilie...
American Journal of Medical Genetics Part A. 191 (2022) 1 - p. 52-63 , 2022

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

2

How history and geography may explain the distribution in t..:

Sarasin, Alain ; Munier, Patrick ; Cartault, François
Genetics and Molecular Biology. 43 (2020) 1 suppl 1 - p. , 2020

Link: https://doi.org/10.1590/..

3

High prevalence of congenital deafness on Reunion Island is..:

Lerat, Justine ; Bonnet, Crystel ; Cartault, François...
Clinical Genetics. 95 (2018) 1 - p. 177-181 , 2018

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

4

Antenatal presentation of hereditary lymphedema type I:

Boudon, E. ; Levy, Y. ; Abossolo, T....
European Journal of Medical Genetics. 58 (2015) 6-7 - p. 329-331 , 2015

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

5

Specific variants in WDR35 cause a distinctive form of Elli..:

Caparrós-Martín, José A. ; De Luca, Alessandro ; Cartault, François...
Human Molecular Genetics. 24 (2015) 14 - p. 4126-4137 , 2015

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

6

Genetic Variations Creating MicroRNA Target Sites in the FX..:

Bandiera, Simonetta ; Cartault, François ; Jannot, Anne-Sophie...
PLoS ONE. 8 (2013) 1 - p. e54791 , 2013

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

7

Creatine and guanidinoacetate reference values in a French ..:

Joncquel-Chevalier Curt, Marie ; Cheillan, David ; Briand, Gilbert...
Molecular Genetics and Metabolism. 110 (2013) 3 - p. 263-267 , 2013

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

8

Screening for primary creatine deficiencies in French patie..:

Cheillan, David ; Curt, Marie Joncquel-Chevalier ; Briand, Gilbert...
Orphanet Journal of Rare Diseases. 7 (2012) 1 - p. , 2012

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

9

Mutation in a primate-conserved retrotransposon reveals a n..:

Cartault, François ; Munier, Patrick ; Benko, Edgar...
Proceedings of the National Academy of Sciences of the United States of America. 109 (2012) 13 - p. 4980-4985 , 2012

Link: https://www.jstor.org/st..

10

Mutation in a primate-conserved retrotransposon reveals a n..:

Cartault, François ; Munier, Patrick ; Benko, Edgar...
Proceedings of the National Academy of Sciences. 109 (2012) 13 - p. 4980-4985 , 2012

Link: https://doi.org/10.1073/..

11

A new XPC gene splicing mutation has lead to the highest wo..:

Cartault, François ; Nava, Caroline ; Malbrunot, Anne-Claire...
DNA Repair. 10 (2011) 6 - p. 577-585 , 2011

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

12

Genetic data analysis of 10 Y-STR loci in two ethnic groups..:

Dubut, Vincent ; Cartault, François ; Gilles, André..
Legal Medicine. 11 (2009) 2 - p. 104-106 , 2009

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

13

Mosaic trisomy 22: five new cases with variable outcomes. I..:

Leclercq, Sandrine ; Baron, Xavier ; Jacquemont, Marie‐Line..
Prenatal Diagnosis. 30 (2009) 2 - p. 168-172 , 2009

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

14

Complete Mitochondrial Sequences for Haplogroups M23 and M4..:

DUBUT, VINCENT ; CARTAULT, FRANÇOIS ; PAYET, CHRISTINE..
Human Biology. 81 (2009) 4 - p. 495-500 , 2009

Link: https://www.jstor.org/st..

15

Inter‐ and Extra‐Indian Admixture and Genetic Diversity in ..:

Dubut, Vincent ; Murail, Pascal ; Pech, Nicolas..
Annals of Human Genetics. 73 (2009) 3 - p. 314-334 , 2009

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