Associated Papers
Dual Genetic Diagnosis of Prader-Willi Syndrome and TMC1-Related Severe Congenital Hearing Loss: Diagnostic Challenges and Cochlear Implant Outcomes.
Samara P et al.
Diagnostics (basel, Switzerland), 2026
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_genes
The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1.
Ott T et al.
Frontiers in Physiology, 2019
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