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authFullName_s : Christian Kubisch
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Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome

Lina Basel-Vanagaite , Bruno Dallapiccola , Ramiro Ramirez-Solis , Alexandra Segref , Holger Thiele , et al.
American Journal of Human Genetics, 2012, 91 (6), pp.998-1010. ⟨10.1016/j.ajhg.2012.10.011⟩
Journal articles pasteur-01375146v1

Genetic Risk Score for Intracranial Aneurysms: Prediction of Subarachnoid Hemorrhage and Role in Clinical Heterogeneity

Mark Bakker , Jos Kanning , Gad Abraham , Amy Martinsen , Bendik Winsvold , et al.
Stroke, 2023, 54 (3), pp.810-818. ⟨10.1161/STROKEAHA.122.040715⟩
Journal articles hal-04177403v1

A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.

Simon von Ameln , Geng Wang , Redouane Boulouiz , Mark A Rutherford , Geoffrey M Smith , et al.
American Journal of Human Genetics, 2012, 91 (5), pp.919-27. ⟨10.1016/j.ajhg.2012.09.002⟩
Journal articles pasteur-00796959v1