E-LIB Suche - Ergebnisse für: Vilain, Catheline

1

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/..

2

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/..

3

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/..

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 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/..

6

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/..

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

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/..

9

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/..

10

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/..

11

A prenatal case of lissencephaly with cerebellar hypoplasia..:

Balza, Claire ; Garofalo, Giulia ; Cos, Teresa...
Clinical Case Reports. 9 (2021) 12 - p. , 2021

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

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

New variant in deficiency of interleukin‐36 receptor antago..:

Salik, Déborah ; Zoghaib, Samer ; Dangoisse, Chantal...
International Journal of Dermatology. 60 (2021) 7 - p. 899-900 , 2021

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

14

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/..

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/..