Variants Associated with Cilium-Related Pathways in Non-Syndromic Cleft Lip/Palate
Bi-allelic ATG4D Variants Linked to Speech and Motor Impairment in Neurodevelopmental Disorders
Rare Nonsyndromic Cochleovestibular Nerve Abnormality: A Case Study of De Novo SIX1 Variant
De novo variants unveil inner ear malformation and deafness – (2018)
Trauma-induced exacerbation of epithelial-stromal TGFBI lattice corneal dystrophy – (2018)
Evaluation of TGFBI corneal dystrophy and molecular diagnostic testing – (2019)
Exome Sequencing Reveals Pleiotropic Effects in Siblings with Autism Spectrum Disorder and Severe Speech Sound Disorder
Genetic Prescreening for Laser Refractive Surgery: Case Report Reveals Inadequate Tissue Response Risk
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