• 50 Years Ago in TheJournalofPediatrics: Molecular Diagnostics Determine Underlying Genetic Etiologies for Well-Described Clinical Syndromes
• A rare cause of pancreatic insufficiency; Johanson Blizzard Syndrome
• Analysis of a child with Johanson-Blizzard syndrome due to novel compound heterozygous variants of UBR1 gene
• Audiological Profiling and Rehabilitation Outcomes in a Child With Johanson-Blizzard Syndrome
• Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay
• Clinical Characteristics and Genetic Causes of Infantile Exocrine Pancreatic Insufficiency in Chinese Patients: Study From a Tertiary Care Center
• Congenital etiologies of exocrine pancreatic insufficiency
• Establishment of a human induced pluripotent stem cell line (SDQLCHi079-A) from a patient with Johanson-Blizzard syndrome carrying heterozygous mutation in UBR1 gene
• Evaluation of Fundus Blood Flow Perfusion in Patients with Diabetic Retinopathy after PPV with Fundus Color Doppler Based on Big Data Mining
• Johanson-Blizzard syndrome caused by novel UBR1 mutation in four Saudi patients
• Johanson-Blizzard syndrome with associated urogenital anomalies
• Johanson-Blizzard Syndrome: A Case Report From Bahrain With a Literature Review
• Johanson-Blizzard's Syndrome with a Novel <em>UBR1</em> Mutation
• Loss of protein quality control gene <em>UBR1</em> sensitizes <em>Saccharomyces cerevisiae</em> to the aminoglycoside hygromycin B
• Pancreatic Malnutrition in Children
• Performance of Children With Johanson-Blizzard Syndrome After Cochlear Implantation
• Severe forms of Johanson-Blizzard syndrome caused by two novel compound heterozygous variants in UBR1: Clinical manifestations, imaging findings and molecular genetics
• UBR-1 ubiquitin ligase regulates the balance between GABAergic and glutamatergic signaling
• UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism