Titre de ma collection
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Derniers dépôts
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Jillian L Ellis, Kimberley J Evason, Changwen Zhang, Makenzie N Fourman, Jiandong Liu, et al.. A missense mutation in the proprotein convertase gene furinb causes hepatic cystogenesis during liver development in zebrafish. Hepatology Communications, 2022, 6 (11), pp.3083 - 3097. ⟨10.1002/hep4.2038⟩. ⟨hal-04772245⟩
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Julie Coton, Audrey Labalme, Marianne Till, Gerald Bussy, Sonia Krifi Papoz, et al.. Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations. Clinical Case Reports, 2018, 6 (5), pp.827-834. ⟨10.1002/ccr3.1450⟩. ⟨hal-04480033⟩
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Elke de Boer, Charlotte Ockeloen, Rosalie Kampen, Juliet Hampstead, Alexander Dingemans, et al.. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein. Genetics in Medicine, 2022, 24 (10), pp.2051-2064. ⟨10.1016/j.gim.2022.06.007⟩. ⟨hal-03790568v2⟩