Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report

Por Charnwichai, Pattaranatcha, Yeetong, Patra, Suphapeetiporn, Kanya, Supornsilchai, Vichit, Sahakitrungruang, Taninee, Shotelersuk, Vorasuk
Publicado no BMC Endocr Disord (2016)

Clinical and mutational spectrum of patients with congenital lipoid adrenal hyperplasia in Southeast Asia

Por Ariyawatkul, Kansuda, Yeetong, Patra, Jaruratanasirikul, Somchit, Loke, Kah Yin, Nakavachara, Pairunyar, Kongkanka, Chawkaew, Sahakitrungruang, Taninee
Publicado no Int J Pediatr Endocrinol (2015)

Two novel CTNS mutations in cystinosis patients in Thailand

Por Yeetong, Patra, Tongkobpetch, Siraprapa, Kingwatanakul, Pornchai, Deekajorndech, Tawatchai, Bernardini, Isa M., Suphapeetiporn, Kanya, Gahl, William A., Shotelersuk, Vorasuk
Publicado em 2012

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

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)