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Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia

Archive ouverte | Shoemark, Amelia | CCSD

International audience. Background Primary ciliary dyskinesia (PCD) is a heterogeneous inherited disorder caused by mutations in approximately 50 cilia-related genes. PCD genotype–phenotype relationships have mostly...

Development and first results of the BEAT-PCD international Primary CiliaryDyskinesia gene variant database: CiliaVar

Archive ouverte | Shoemark, Amelia | CCSD

International audience. Aim: To establish an online open database registering mutations and specific combinations of mutations causing PCD.

Evaluating gene-disease relationships in motile ciliopathies: an international ClinGen and BEAT-PCD ERS CRC collaboration.

Archive ouverte | Crowley, Suzanne | CCSD

International audience. Genetic diagnosis of motile ciliopathies is conducted by healthcare, commercial and private laboratories. 88 genes have been implicated in motile ciliopathies (PCD, male infertility and assoc...

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