Case report: Severe nonketotic hyperglycinemia in a neonate without apparent seizures but concomitant cleft palate and cerebral sinovenous thrombosis

por Thewamit, Rapeepat, Khongkhatithum, Chaiyos, Thampratankul, Lunliya, Kamolvisit, Wuttichart, Khongkrapan, Arthaporn, Wattanasirichaigoon, Duangrurdee
Publicado 2023

Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations

por THAWEESAPPHITHAK, Sermporn, SAENGSIN, Jirawat, KAMOLVISIT, Wuttichart, THEERAPANON, Thanakorn, PORNTAVEETUS, Thantrira, SHOTELERSUK, Vorasuk
Publicado 2022

Using an experiment among clinical experts to determine the cost and clinical impact of rapid whole exome sequencing in acute pediatric settings

por Kapol, Nattiya, Kamolvisit, Wuttichart, Kongkiattikul, Lalida, Huang-Ku, Evan, Sribundit, Namfon, Lochid-Amnuay, Surasit, Samprasit, Nathapol, Dulsamphan, Thamonwan, Juntama, Parntip, Suwanpanich, Chotika, Boonsimma, Ponghathai, Shotelersuk, Vorasuk, Teerawattananon, Yot
Publicado 2023

A LILRB1 variant with a decreased ability to phosphorylate SHP-1 leads to autoimmune diseases

por Sinthuwiwat, Thivaratana, Buranapraditkun, Supranee, Kamolvisit, Wuttichart, Tongkobpetch, Siraprapa, Chetruengchai, Wanna, Srichomthong, Chalurmpon, Assawapitaksakul, Adjima, Phokaew, Chureerat, Kueanjinda, Patipark, Palaga, Tanapat, Boonpiyathad, Tadech, Suphapeetiporn, Kanya, Hirankarn, Nattiya, Shotelersuk, Vorasuk
Publicado 2022

Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants

por Chokvithaya, Suphalak, Caengprasath, Natarin, Buasong, Aayalida, Jantasuwan, Supavadee, Santawong, Kanokwan, Leela-adisorn, Netchanok, Tongkobpetch, Siraprapa, Ittiwut, Chupong, Saengow, Vitchayaporn Emarach, Kamolvisit, Wuttichart, Boonsimma, Ponghatai, Bongsebandhu-phubhakdi, Saknan, Shotelersuk, Vorasuk
Publicado 2023

AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes

por Hennocq, Quentin, Bongibault, Thomas, Marlin, Sandrine, Amiel, Jeanne, Attie-Bitach, Tania, Baujat, Geneviève, Boutaud, Lucile, Carpentier, Georges, Corre, Pierre, Denoyelle, Françoise, Djate Delbrah, François, Douillet, Maxime, Galliani, Eva, Kamolvisit, Wuttichart, Lyonnet, Stanislas, Milea, Dan, Pingault, Véronique, Porntaveetus, Thantrira, Touzet-Roumazeille, Sandrine, Willems, Marjolaine, Picard, Arnaud, Rio, Marlène, Garcelon, Nicolas, Khonsari, Roman H.
Publicado 2023