Search Results - "polymalformative syndromes" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

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Autosomal recessive congenital cataract is associated with a novel 4-bp splicing deletion mutation in a novel C10orf71 human gene

by Chograni, M., Alahdal, H. M., Rejili, M.
Published in Human genomics (13.05.2023)

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Sirenomelia: a new type, showing VACTERL association with Thomas syndrome and a review of literature

by Lhuaire, Martin, Jestin, Agnès, Boulagnon, Camille, Loock, Mélanie, Doco-Fenzy, Martine, Gaillard, Dominique, Diebold, Marie-Danièle, Avisse, Claude, Labrousse, Marc
Published in Birth defects research. A Clinical and molecular teratology (01.03.2013)

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