Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes by Eva Lindberg, Claes Moller, Juha Kere, Satu Wedenoja, Agneta Anderzén-Carlsson

Connect to this object online.

Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome by Petra Loid, Petra Loid, Petra Loid, Marita Lipsanen-Nyman, Marita Lipsanen-Nyman, Sirpa Ala-Mello, Katariina Hannula-Jouppi, Katariina Hannula-Jouppi, Katariina Hannula-Jouppi, Juha Kere, Juha Kere, Juha Kere, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie, Mari Muurinen, Mari Muurinen, Mari Muurinen

Connect to this object online.

CRISPR/Cas9-mediated activation of NR5A1 steers female human embryonic stem cell-derived bipotential gonadal-like cells towards a steroidogenic cell fate by Laura Danti, Karolina Lundin, Kirsi Sepponen, Dawit A. Yohannes, Juha Kere, Timo Tuuri, Juha S. Tapanainen

Connect to this object online.

Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report by Andrea Bieder, Elisabet Einarsdottir, Hans Matsson, Harriet E. Nilsson, Jesper Eisfeldt, Anca Dragomir, Martin Paucar, Tobias Granberg, Tie-Qiang Li, Anna Lindstrand, Juha Kere, Isabel Tapia-Páez

Connect to this object online.

Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma by Liisa Harjama, Kaisa Kettunen, Outi Elomaa, Elisabet Einarsdottir, Hannele Heikkilä, Sirpa Kivirikko, Katriina Lappalainen, Janna Saarela, Caroline Alby, Annamari Ranki, Juha Kere, Smail Hadj-Rabia, Katariina Hannula-Jouppi

Connect to this object online.