Novel mutations in the STK11 gene in Thai patients with Peutz-Jeghers syndrome

Por Ausavarat, Surasawadee, Leoyklang, Petcharat, Vejchapipat, Paisarn, Chongsrisawat, Voranush, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Publicado em 2009

A novel p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I

Por Prommajan, Korrakot, Ausavarat, Surasawadee, Srichomthong, Chalurmpon, Puangsricharern, Vilavun, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Publicado em 2011

Circulating thyrotropin receptor messenger ribonucleic acid is not an effective marker in the follow-up of differentiated thyroid carcinoma

Por Ausavarat, Surasawadee, Sriprapaporn, Jiraporn, Satayaban, Busara, Thongnoppakhun, Wanna, Laipiriyakun, Aunchalee, Amornkitticharoen, Boontham, Chanachai, Rujaporn, Pattanachak, Chaveevan
Publicado no Thyroid Res (2015)

PTPRF is disrupted in a patient with syndromic amastia

Por Ausavarat, Surasawadee, Tongkobpetch, Siraprapa, Praphanphoj, Verayuth, Mahatumarat, Charan, Rojvachiranonda, Nond, Snabboon, Thiti, Markello, Thomas C, Gahl, William A, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Publicado em 2011

A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28

Por Yeetong, Patra, Ausavarat, Surasawadee, Bhidayasiri, Roongroj, Piravej, Krisna, Pasutharnchat, Nath, Desudchit, Tayard, Chunharas, Chaipat, Loplumlert, Jakrin, Limotai, Chusak, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Publicado em 2013

PKHD1 Sequence Variations in 78 Children and Adults with Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis

Por Gunay-Aygun, Meral, Tuchman, Maya, Font-Montgomery, Esperanza, Lukose, Linda, Edwards, Hailey, Garcia, Angelica, Ausavarat, Surasawadee, Ziegler, Shira G., Piwnica-Worms, Katie, Bryant, Joy, Bernardini, Isa, Fischer, Roxanne, Huizing, Marjan, Guay-Woodford, Lisa, Gahl, William A.
Publicado em 2009

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

Por Lindert, Uschi, Cabral, Wayne A., Ausavarat, Surasawadee, Tongkobpetch, Siraprapa, Ludin, Katja, Barnes, Aileen M., Yeetong, Patra, Weis, Maryann, Krabichler, Birgit, Srichomthong, Chalurmpon, Makareeva, Elena N., Janecke, Andreas R., Leikin, Sergey, Röthlisberger, Benno, Rohrbach, Marianne, Kennerknecht, Ingo, Eyre, David R., Suphapeetiporn, Kanya, Giunta, Cecilia, Marini, Joan C., Shotelersuk, Vorasuk
Publicado no Nat Commun (2016)