Refreshing results…
An infant with glutaric aciduria type iic diagnosed with a novel mutation
Download from www.turkishjournalpediatrics.orgA Case of Vitamin D-Dependent Rickets Type 1A with a Novel Mutation in the Uzbek Population
Download from doi.orgA novel genetic mutation in a Turkish family with GCK-MODY
Download from doi.orgTwo Frameshift Mutations in MKRN3 in Turkish Patients with Familial Central Precocious Puberty
Download from www.karger.comCrouzonodermoskeletal Syndrome with Hypoplasia of Corpus Callosum and Inferior Vermis
Download from doi.orgEarly-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation
Download from journals.sagepub.comCoexistence of Kabuki Syndrome and Autoimmune Thyroiditis
Download from doi.orgMitochondrial membrane protein-associated neurodegeneration in a Turkish patient
Download from doi.orgRodriguez lethal acrofacial dysostosis syndrome with ambiguous genitalia
Download from doi.orgMitochondrial membrane protein-associated neurodegeneration
Download from www.researchgate.netMissing publications? Search for publications with a matching author name.