Johanson-Blizzard Syndrome Latest Advances
Find the Latest Research About Johanson-Blizzard Syndrome
Last Updated: 09/26/2026
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Found 39 publications
Defective Ala Nasi - Johanson Blizzard Syndrome.
Journal: Indian journal of dermatology
Published: July 13, 2026
Glutamate metabolism disruption in Johanson-Blizzard syndrome: Insights from C. elegans ubr-1 model.
Glutamate metabolism disruption in Johanson-Blizzard syndrome: Insights from C. elegans ubr-1 model.
Journal: Journal of biosciences
Published: February 06, 2025
Two de novo UBR1 variants in trans as a cause of Johanson-Blizzard syndrome.
Journal: Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia
Published: December 09, 2024
Johanson-Blizzard syndrome with cystic dilation of the cochlea and hypoplastic modiolus: a case report.
Journal: Pediatric radiology
Published: July 25, 2024
Establishment of a human induced pluripotent stem cell line (SDQLCHi079-A) from a patient with Johanson-Blizzard syndrome carrying heterozygous mutation in UBR1 gene.
Journal: Stem cell research
Published: May 28, 2024
UBR-1 ubiquitin ligase regulates the balance between GABAergic and glutamatergic signaling.
Journal: EMBO reports
Published: February 16, 2023
Analysis of a child with Johanson-Blizzard syndrome due to novel compound heterozygous variants of UBR1 gene
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: December 01, 2022
Evaluation of Fundus Blood Flow Perfusion in Patients with Diabetic Retinopathy after PPV with Fundus Color Doppler Based on Big Data Mining.
Journal: Journal of healthcare engineering
Published: December 02, 2021
50 Years Ago in TheJournalofPediatrics: Molecular Diagnostics Determine Underlying Genetic Etiologies for Well-Described Clinical Syndromes.
Journal: The Journal of pediatrics
Published: November 19, 2021
Audiological Profiling and Rehabilitation Outcomes in a Child With Johanson-Blizzard Syndrome.
Journal: Journal of audiology & otology
Published: July 26, 2021
Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay.
Journal: Clinical genetics
Published: November 02, 2020
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.
Journal: American journal of human genetics
Published: July 05, 2020
Last Updated: 09/26/2026