Associated Papers
Screening for Hearing Impairment in Newborns Using Targeted Genomic Sequencing: A Large Pilot Cohort Study.
Lin PH et al.
Clinical and Experimental Otorhinolaryngology, 2025
Deficiency of FABP7 Triggers Premature Neural Differentiation in Idiopathic Normocephalic Autism Organoids.
Han X et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
39556706 (PubMed )
Supplement: ADVS-12-2406849-s001.zip › Table_S13.xlsx › variant_of_asd
Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.
Sun F et al.
Orphanet Journal of Rare Diseases, 2024
38844942 (PubMed )
Supplement: 13023_2024_3220_MOESM8_ESM.xls › Sheet1
New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.
Li W et al.
Neural Plasticity, 2019
The heterozygous EDNRB mutation in a Chinese family with Waardenburg syndrome type I.
Cheng HH et al.
International Journal of Ophthalmology, 2019
Novel mutations of endothelin-B receptor gene in Pakistani patients with Waardenburg syndrome.
Jabeen R et al.
Molecular Biology Reports, 2012
Mutation analysis of endothelin-B receptor gene in patients with Hirschsprung disease in Taiwan.
Lin YC et al.
Journal of Pediatric Gastroenterology and Nutrition, 2008
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