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Structure: Internal structure identifier : 333203
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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
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Reference percentiles for FEV1 and BMI in European children and adults with cystic fibrosis.

Pierre-Yves Boëlle , Laura Viviani , Pierre-Francois Busson , Hanne Olesen , Sophie Ravilly , et al.
Orphanet Journal of Rare Diseases, 2012, 7 (1), pp.64. ⟨10.1186/1750-1172-7-64⟩
Journal articles inserm-00764370v1