Browsing WoS İndeksli Yayınlar Koleksiyonu by Subject "UBR1"
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Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum
(Wiley, 2014)Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp ...