13 results on '"Yau, Kyle S."'
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2. Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy
3. Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores
4. Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience
5. Congenital Titinopathy: Comprehensive characterization and pathogenic insights
6. Whole exome sequencing in foetal akinesia expands the genotype–phenotype spectrum of GBE1 glycogen storage disease mutations
7. Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth
8. SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy
9. Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
10. Kelch Proteins
11. Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy
12. Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores
13. Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
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