Associated Papers
Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study.
Hashiba T et al.
Journal of Diabetes Investigation, 2025
Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing.
Nakajima E et al.
Human Genome Variation, 2024
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.
Hammarsjö A et al.
Journal of Human Genetics, 2021
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