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List of works by Samantha J Bryen

Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients

scientific article published on 14 February 2020

Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants

scientific article published on 25 September 2019

Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly

scientific article published on 22 August 2019

Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy

scientific article published on 29 August 2020

Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin

scientific article published on 25 April 2019

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

scientific article published on 29 October 2019

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