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

A milder form of NSRP1‐associated neurodevelopmental disord..:

Neuens, Sebastian ; Kausar, Maiza ; Kang, Sun‐Kyoung...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
?
2

Clinical and Molecular Spectrum of Autosomal Recessive CA8‐..:

Kaiyrzhanov, Rauan ; Ortigoza‐Escobar, Juan Darío ; Stringer, Brett W....
Movement Disorders.  39 (2024)  6 - p. 983-995 , 2024
Link: https://doi.org/10.1002/..
 
?
3

Comprehensive evaluation of the implementation of episignat..:

Giuili, Edoardo ; Grolaux, Robin ; Macedo, Catarina Z. N. M....
Human Genetics.  142 (2023)  12 - p. 1721-1735 , 2023
Link: https://doi.org/10.1007/..
 
?
4

Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndr..:

van Renterghem, Victoria ; Vilain, Catheline ; Devriendt, Koenraad...
European Journal of Medical Genetics.  66 (2023)  4 - p. 104729 , 2023
Link: https://doi.org/10.1016/..
 
?
5

A pathogenic CTBP1 variant featuring HADDTS with dystrophic..:

Kadhim, Hazim ; El-Howayek, Eliane ; Coppens, Sandra...
Neuromuscular Disorders.  33 (2023)  5 - p. 410-416 , 2023
Link: https://doi.org/10.1016/..
 
?
6

A novel human iPSC model of COL4A1/A2 small vessel disease ..:

Al-Thani, Maha ; Goodwin-Trotman, Mary ; Bell, Steven...
Stem Cell Reports.  18 (2023)  12 - p. 2386-2399 , 2023
Link: https://doi.org/10.1016/..
 
?
7

Evaluation of neurodevelopmental symptoms in 10 cases of ne..:

Salik, Deborah ; Hadj‐Rabia, Smail ; Hohl, Daniel...
Pediatric Dermatology.  39 (2022)  4 - p. 590-593 , 2022
Link: https://doi.org/10.1111/..
 
?
8

Ehlers‐Danlos/myopathy overlap syndrome caused by a large d..:

Coppens, Sandra ; Desmyter, Laurence ; Koch, Manuel...
American Journal of Medical Genetics Part A.  188 (2022)  5 - p. 1556-1561 , 2022
Link: https://doi.org/10.1002/..
 
?
9

Carbamazepine efficacy in a severe electro‐clinical present..:

Santalucia, Roberto ; Vilain, Catheline ; Soblet, Julie...
Annals of Clinical and Translational Neurology.  9 (2022)  7 - p. 1095-1099 , 2022
Link: https://doi.org/10.1002/..
 
?
10

Cancer risk and tumour spectrum in 172 patients with a germ..:

Guerrini-Rousseau, Léa ; Masliah-Planchon, Julien ; Waszak, Sebastian M...
Journal of Medical Genetics.  59 (2022)  11 - p. 1123-1132 , 2022
Link: https://doi.org/10.1136/..
 
?
11

Biallelic gephyrin variants lead to impaired GABAergic inhi..:

Macha, Arthur ; Liebsch, Filip ; Fricke, Steffen...
Human Molecular Genetics.  31 (2021)  6 - p. 901-913 , 2021
Link: https://doi.org/10.1093/..
 
?
12

Phenotypes and genotypes in non‐consanguineous and consangu..:

Duerinckx, Sarah ; Désir, Julie ; Perazzolo, Camille...
Molecular Genetics & Genomic Medicine.  9 (2021)  9 - p. , 2021
Link: https://doi.org/10.1002/..
 
?
13

Non-hotspot PIK3CA mutations are more frequent in CLOVES th..:

Brouillard, Pascal ; Schlögel, Matthieu J. ; Homayun Sepehr, Nassim...
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
?
14

CACNA1A-associated epilepsy: Electroclinical findings and t..:

Le Roux, Marie ; Barth, Magalie ; Gueden, Sophie...
European Journal of Paediatric Neurology.  33 (2021)  - p. 75-85 , 2021
Link: https://doi.org/10.1016/..
 
?
15

The Retina in Patients With Triple A Syndrome: A Window Int..:

Ulgiati, Fiorenza ; Lhoir, Sophie ; Balikova, Irina...
Frontiers in Endocrinology.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
1-15