Associated Papers
Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition.
Kido J et al.
Journal of Inherited Metabolic Disease, 2024
Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.
Ladsous M et al.
Thyroid : Official Journal of the American Thyroid Association, 2014
Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations.
Neerman-Arbez M et al.
Human Mutation, 2007
Select a paper to view details