Search - Nantes Université Access content directly

Filter your results

3 Results
authFullName_s : Henry Houlden
Image document

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

Quentin Thomas , Marialetizia Motta , Thierry Gautier , Maha Zaki , Andrea Ciolfi , et al.
American Journal of Human Genetics, 2022, ⟨10.1016/j.ajhg.2022.08.008⟩
Journal articles hal-03790588v1

Intracranial Aneurysm Classifier Using Phenotypic Factors: An International Pooled Analysis

Sandrine Morel , Isabel Hostettler , Georg Spinner , Romain Bourcier , Joanna Pera , et al.
Journal of Personalized Medicine, 2022, 12 (9), pp.1410. ⟨10.3390/jpm12091410⟩
Journal articles hal-04060055v1
Image document

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

Heba Morsy , Mehdi Benkirane , Elisa Cali , Clarissa Rocca , Kristina Zhelcheska , et al.
Genetics in Medicine, 2022, ⟨10.1016/j.gim.2022.09.013⟩
Journal articles hal-03840317v1