Search Results - "Pongpanich, M"

Whole genome sequencing identifies a homozygous nonsense mutation in the JPH2 gene in Shih Tzu dogs with progressive retinal atrophy by Urkasemsin, G., Pongpanich, M., Sariya, L., Kongcharoen, A., Buddhirongawatr, R., Rungarunlert, S., Ferreira, J. N., Chetruengchai, W., Phokaew, C., Srichomthong, C., Shotelersuk, V.

“…Summary Progressive retinal atrophy (PRA), common autosomal recessive disorder affecting several dog breeds including Shih Tzu, is characterized by…”
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Whole-exome sequencing reveals a novel COL2A1 mutation in a patient with spondyloepiphyseal dysplasia congenita by Sangsin, A, Srichomthong, C, Pongpanich, M, Suphapeetiporn, K, Shotelersuk, V

“…Skeletal dysplasia is a group of disorders with more than 450 entities, many of which cannot be differentiated, especially during infancy, but could lead to…”
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Whole-exome sequencing reveals a novel COL2A1 mutation in a patient with spondylo-epiphyseal dysplasia congenita by Sangsin, A, Srichomthong, C, Pongpanich, M, Suphapeetiporn, K, Shotelersuk, V

“…Skeletal dysplasia is a group of disorders with more than 450 entities, many of which cannot be differentiated, especially during infancy, but could lead to…”
Get full text