E-LIB Suche - Ergebnisse für: Labalme, A.

1

Deciphering balanced translocations in infertile males by n..:

Yammine, T ; Reynaud, N ; Lejeune, H...
Molecular Human Reproduction. 27 (2021) 6 - p. , 2021

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

2

A genome-wide DNA methylation signature for SETD1B-related ..:

Krzyzewska, I. M. ; Maas, S. M. ; Henneman, P....
Clinical Epigenetics. 11 (2019) 1 - p. , 2019

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

3

Next-generation sequencing (NGS) is a powerful tool to impr..:

Labalme, A. ; Chatron, N. ; Till, M....
European Journal of Paediatric Neurology. 21 (2017) - p. e52 , 2017

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

4

Next-generation sequencing allows a diagnostic yield of 23...:

Lesca, G. ; Labalme, A. ; Mignot, C....
European Journal of Paediatric Neurology. 21 (2017) - p. e168-e169 , 2017

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

5

A novel homozygous truncating mutation of the SFRP4 gene in..:

Chatron, N. ; Lesca, G. ; Labalme, A....
Clinical Genetics. 92 (2017) 1 - p. 112-114 , 2017

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

6

Severe cognitive impairment and early-onset epilepsy in six..:

Chatron, N. ; Møller, R.S. ; Champaigne, N.L....
European Journal of Paediatric Neurology. 21 (2017) - p. e194 , 2017

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

7

Statistical method to compare massive parallel sequencing p..:

Elsensohn, MH. ; Leblay, N. ; Dimassi, S....
BMC Bioinformatics. 18 (2017) 1 - p. , 2017

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

8

Prenatal microarray comparative genomic hybridization: Expe..:

Pons, L. ; Till, M. ; Alix, E....
Journal of Gynecology Obstetrics and Human Reproduction. 46 (2017) 3 - p. 275-283 , 2017

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

9

Christianson syndrome: An underestimated cause of electrica..:

Mathieu, M.-L. ; de Bellescize, J. ; Till, M....
European Journal of Paediatric Neurology. 21 (2017) - p. e98 , 2017

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

10

West syndrome due to compound heterozygous QARS mutations:

Poulat, A.L. ; Lesca, G. ; Chatron, N....
European Journal of Paediatric Neurology. 21 (2017) - p. e99 , 2017

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

11

Three new cases of asparagine synthetase deficiency: Confir..:

Faoucher, M. ; Putoux, A. ; Francannet, C....
European Journal of Paediatric Neurology. 21 (2017) - p. e63 , 2017

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

12

6q22.1 deletion is associated with epilepsy and abnormal mo..:

Schluth-Bolard, C. ; Flamand-Roze, E. ; Masurel, A....
European Journal of Paediatric Neurology. 21 (2017) - p. e52-e53 , 2017

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

13

Whole‐exome sequencing improves the diagnosis yield in spor..:

Dimassi, S. ; Labalme, A. ; Ville, D....
Clinical Genetics. 89 (2015) 2 - p. 198-204 , 2015

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

14

OP13 – 2799: Landau-Kleffner syndrome (LKS), continuous spi..:

Wright, S. ; Waters, P. ; Lesca, G....
European Journal of Paediatric Neurology. 19 (2015) - p. S5 , 2015

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

15

Incidental findings on array comparative genomic hybridizat..:

Nguyen, K. ; Putoux, A. ; Busa, T....
Clinical Genetics. 87 (2014) 5 - p. 488-491 , 2014

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