I agree that this site is using cookies. You can find further informations here.
X
Afenjar, A.
636  results:
Search for persons X
?
1

SATB2-associated syndrome: characterization of skeletal fea..:

Mouillé, M. ; Rio, M. ; Breton, S....
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
?
2

COLLAGEN RELATED MUSCLE DISEASES:

Metay, C. ; Jobic, V. ; Isapof, A....
Neuromuscular Disorders.  31 (2021)  - p. S67 , 2021
Link: https://doi.org/10.1016/..
 
?
3

MED13L-related intellectual disability: involvement of miss..:

Smol, T. ; Petit, F. ; Piton, A....
neurogenetics.  19 (2018)  2 - p. 93-103 , 2018
Link: https://doi.org/10.1007/..
 
?
4

Wiedemann‐Steiner syndrome as a major cause of syndromic in..:

Baer, S. ; Afenjar, A. ; Smol, T....
Clinical Genetics.  94 (2018)  1 - p. 141-152 , 2018
Link: https://doi.org/10.1111/..
 
?
5

Corpus callosum agenesis with clinically normal people caus..:

Billette de Villemeur, T. ; Valence, S. ; Heron, D....
European Journal of Paediatric Neurology.  21 (2017)  - p. e43 , 2017
Link: https://doi.org/10.1016/..
 
?
6

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/..
 
?
7

Using medical exome sequencing to identify the causes of ne..:

Chérot, E. ; Keren, B. ; Dubourg, C....
Clinical Genetics.  93 (2017)  3 - p. 567-576 , 2017
Link: https://doi.org/10.1111/..
 
?
8

Xq28 duplication includingMECP2in six unreported affected f..:

El Chehadeh, S. ; Touraine, R. ; Prieur, F....
Clinical Genetics.  91 (2017)  4 - p. 576-588 , 2017
Link: https://doi.org/10.1111/..
 
?
9

New insights in genetic diagnosis of congenital/very early-..:

Burglen, L. ; Haye, D. ; Valence, S....
European Journal of Paediatric Neurology.  21 (2017)  - p. e84 , 2017
Link: https://doi.org/10.1016/..
 
?
10

Genetic counselling difficulties and ethical implications o..:

Lefebvre, M. ; Sanlaville, D. ; Marle, N....
Clinical Genetics.  89 (2016)  5 - p. 630-635 , 2016
Link: https://doi.org/10.1111/..
 
?
11

O9 – 2019 Similar early characteristics but variable neurol..:

Milh, M ; Boutry-Kryza, N ; Sutera-Sardo, J...
European Journal of Paediatric Neurology.  17 (2013)  - p. S3-S4 , 2013
Link: https://doi.org/10.1016/..
 
?
12

Encéphalopathies épileptiques précoces et mutations de novo..:

Milh, M. ; Sutera-Sardo, J. ; Boutry-Kryza, N....
Archives de Pédiatrie.  20 (2013)  4 - p. 429 , 2013
Link: https://doi.org/10.1016/..
 
?
13

Phénotype clinique reconnaissable des neurodegeneration wit..:

Afenjar, A. ; Billette De Villemeur, T. ; Chabrol, B....
Archives de Pédiatrie.  20 (2013)  4 - p. 429-430 , 2013
Link: https://doi.org/10.1016/..
 
?
14

Analysis of the chromosome X exome in patients with autism ..:

Nava, C ; Lamari, F ; Héron, D...
Translational Psychiatry.  2 (2012)  10 - p. e179-e179 , 2012
Link: https://doi.org/10.1038/..
 
?
15

Stratégie d'exploration d'une déficience intellectuelle ine..:

Verloes, A. ; Héron, D. ; Billette de Villemeur, T....
Archives de Pédiatrie.  19 (2012)  2 - p. 194-207 , 2012
Link: https://doi.org/10.1016/..
 
1-15