E-LIB Suche - Ergebnisse für: Lazaro, Leila

1

From Negative to Positive Diagnosis: Structural Variation C..:

Pyromali, Ioanna ; Benslimane, Nesrine ; Favreau, Frédéric...
Journal of Personalized Medicine. 12 (2022) 2 - p. 212 , 2022

Link: https://doi.org/10.3390/..

2

Early-onset epileptic encephalopathy related to germline PI..:

Cabasson, Sébastien ; Van-Gils, Julien ; Villéga, Frédéric...
European Journal of Paediatric Neurology. 28 (2020) - p. 214-220 , 2020

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

3

Multimodal Outcome at 7 Years of Age after Neonatal Arteria..:

Chabrier, Stéphane ; Peyric, Emeline ; Drutel, Laure...
The Journal of Pediatrics. 172 (2016) - p. 156-161.e3 , 2016

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

4

The transcription coactivator ASC-1 is a regulator of skele..:

Davignon, Laurianne ; Chauveau, Claire ; Julien, Cédric...
Human Molecular Genetics. 25 (2016) 8 - p. 1559-1573 , 2016

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

5

Whole‐body muscle magnetic resonance imaging in SEPN1‐relat..:

Hankiewicz, Karolina ; Carlier, Robert Y. ; Lazaro, Leila...
Muscle & Nerve. 52 (2015) 5 - p. 728-735 , 2015

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

6

Spectrum of pontocerebellar hypoplasia in 13 girls and boys..:

Burglen, Lydie ; Chantot-Bastaraud, Sandra ; Garel, Catherine...
Orphanet Journal of Rare Diseases. 7 (2012) 1 - p. 18 , 2012

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

7

5q12.1 deletion: Delineation of a phenotype including menta..:

Jaillard, Sylvie ; Andrieux, Joris ; Plessis, Ghislaine...
American Journal of Medical Genetics Part A. 155 (2011) 4 - p. 725-731 , 2011

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

8

Age-Dependent Mendelian Predisposition to Herpes Simplex Vi..:

Abel, Laurent ; Plancoulaine, Sabine ; Jouanguy, Emmanuelle...
The Journal of Pediatrics. 157 (2010) 4 - p. 623-629.e1 , 2010

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

9

Null mutations causing depletion of the type 1 ryanodine re..:

Monnier, Nicole ; Marty, Isabelle ; Faure, Julien...
Human Mutation. 29 (2008) 5 - p. 670-678 , 2008

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

10

Phenotypic and molecular variability of the holoprosencepha..:

Lazaro, Leila ; Dubourg, Christéle ; Pasquier, Laurent...
American Journal of Medical Genetics Part A. 129A (2004) 1 - p. 21-24 , 2004

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

11

Molecular screening of the TGIF gene in holoprosencephaly: ..:

Aguilella, Céline ; Dubourg, Christèle ; Attia-Sobol, Jocelyne...
Human Genetics. 112 (2003) 2 - p. 131-134 , 2003

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

12

Enteroviral Meningoencephalitis after Anti‐CD20 (Rituximab)..:

Quartier, Pierre ; Tournilhac, Olivier ; Archimbaud, Christine...
Clinical Infectious Diseases. 36 (2003) 3 - p. e47-e49 , 2003

Link: https://doi.org/10.1086/..

13

Enteroviral Meningoencephalitis after Anti-CD20 (Rituximab)..:

Pierre Quartier ; Olivier Tournilhac ; Christine Archimbaud...
Clinical Infectious Diseases. 36 (2003) 3 - p. 387 ff. , 2003

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

14

High rate of hypomorphic variants as the cause of inherited..:

Benkirane, Mehdi ; Marelli, Cecilia ; Guissart, Claire...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41436-021-01250-6. , 2021

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

15

High rate of hypomorphic variants as the cause of inherited..:

Benkirane, Mehdi ; Marelli, Cecilia ; Guissart, Claire...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41436-021-01250-6. , 2021

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