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Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds

article

Clinical features and management issues in Mowat-Wilson syndrome

artículo científico publicado en 2006

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

article by Sebastian Köhler et al published 8 January 2019 in Nucleic Acids Research

Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene.

artículo científico publicado en 2006

The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species

artículo científico publicado en 2020

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