Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort

Por Löf, Christoffer, Patyra, Konrad, Kuulasmaa, Teemu, Vangipurapu, Jagadish, Undeutsch, Henriette, Jaeschke, Holger, Pajunen, Tuulia, Kero, Andreina, Krude, Heiko, Biebermann, Heike, Kleinau, Gunnar, Kühnen, Peter, Rantakari, Krista, Miettinen, Päivi, Kirjavainen, Turkka, Pursiheimo, Juha-Pekka, Mustila, Taina, Jääskeläinen, Jarmo, Ojaniemi, Marja, Toppari, Jorma, Ignatius, Jaakko, Laakso, Markku, Kero, Jukka
Publicado no Thyroid (2016)

Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

Por Cangul, Hakan, Liao, Xiao-Hui, Schoenmakers, Erik, Kero, Jukka, Barone, Sharon, Srichomkwun, Panudda, Iwayama, Hideyuki, Serra, Eva G., Saglam, Halil, Eren, Erdal, Tarim, Omer, Nicholas, Adeline K., Zvetkova, Ilona, Anderson, Carl A., Frankl, Fiona E. Karet, Boelaert, Kristien, Ojaniemi, Marja, Jääskeläinen, Jarmo, Patyra, Konrad, Löf, Christoffer, Williams, E. Dillwyn, Soleimani, Manoocher, Barrett, Timothy, Maher, Eamonn R., Chatterjee, V. Krishna, Refetoff, Samuel, Schoenmakers, Nadia
Publicado no JCI Insight (2018)