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Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomalyAmerican Journal of Human Genetics, 2022, ⟨10.1016/j.ajhg.2022.08.008⟩
Journal articles
hal-03790588v1
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Intracranial Aneurysm Classifier Using Phenotypic Factors: An International Pooled AnalysisJournal of Personalized Medicine, 2022, 12 (9), pp.1410. ⟨10.3390/jpm12091410⟩
Journal articles
hal-04060055v1
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Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxiaGenetics in Medicine, 2022, ⟨10.1016/j.gim.2022.09.013⟩
Journal articles
hal-03840317v1
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