E-LIB Suche - Ergebnisse für: Touraine, Renaud

1

Expanding the clinical spectrum of Coffin-Siris syndrome wi..:

Alharbi, Ralah ; Suchet-Dechaud, Anna ; Harzallah, Inès..
European Journal of Medical Genetics. 69 (2024) - p. 104948 , 2024

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

2

Idiopathic pulmonary fibrosis with benignSFTPCvariant and p..:

Castaldo, Alice ; Delestrain, Celine ; Diesler, Rémi...
ERJ Open Research. 9 (2023) 6 - p. 00472-2023 , 2023

Link: https://doi.org/10.1183/..

3

Clinical heterogeneity of NADSYN1‐associated VCRL syndrome:

Aubert‐Mucca, Marion ; Janel, Caroline ; Porquet‐Bordes, Valérie...
Clinical Genetics. 104 (2023) 1 - p. 114-120 , 2023

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

4

Congenital hydrocephalus: new Mendelian mutations and evide..:

Jacquemin, Valerie ; Versbraegen, Nassim ; Duerinckx, Sarah...
Human Genomics. 17 (2023) 1 - p. , 2023

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

5

Identification and in vivo functional investigation of a HO..:

Vaché, Christel ; Cubedo, Nicolas ; Mansard, Luke...
European Journal of Human Genetics. 31 (2023) 7 - p. 834-840 , 2023

Link: https://doi.org/10.1038/..

6

A second individual with rhizomelic spondyloepimetaphyseal ..:

Sabbagh, Quentin ; Alkar, Fanny ; Patte, Karine...
European Journal of Medical Genetics. 65 (2022) 6 - p. 104495 , 2022

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

7

Bi-allelic loss-of-function variants in PPFIBP1 cause a neu..:

Rosenhahn, Erik ; O'Brien, Thomas J. ; Zaki, Maha S....
The American Journal of Human Genetics. 109 (2022) 8 - p. 1421-1435 , 2022

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

8

Epileptic spasms are associated with increased stereo‐elect..:

Neal, Andrew ; Bouet, Romain ; Lagarde, Stanislas...
Epilepsia. 63 (2022) 9 - p. 2359-2370 , 2022

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

9

Screening of the duplication 24 pb of ARX gene in Moroccan ..:

Benmakhlouf, Yousra ; Touraine, Renaud ; Harzallah, Ines...
BMC Research Notes. 14 (2021) 1 - p. , 2021

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

10

Rare manifestations and malignancies in tuberous sclerosis ..:

Sauter, Matthias ; Belousova, Elena ; Benedik, Mirjana P....
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

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

11

GGCX‐related congenital combined vitamin K‐dependent clotti..:

Mathonnet, Alix ; Cunat, Séverine ; Allias, Fabienne...
American Journal of Medical Genetics Part A. 188 (2021) 1 - p. 314-318 , 2021

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

12

TuberOus SClerosis registry to increAse disease awareness (..:

Kingswood, J. Chris ; Belousova, Elena ; Benedik, Mirjana P....
Frontiers in Neurology. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

13

Care management in a French cohort with Down syndrome from ..:

Roux-Levy, Pierre-Henri ; Sanlaville, Damien ; De Freminville, Bénédicte...
European Journal of Medical Genetics. 64 (2021) 10 - p. 104290 , 2021

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

14

Clinical and neuroimaging findings in 33 patients with MCAP..:

Garde, Aurore ; Guibaud, Laurent ; Goldenberg, Alice...
Clinical Genetics. 99 (2021) 5 - p. 650-661 , 2021

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

15

X-linked partial corpus callosum agenesis with mild intelle..:

Bousquet, Idriss ; Bozon, Muriel ; Castellani, Valérie...
neurogenetics. 22 (2021) 1 - p. 43-51 , 2021

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