Natural course of Fabry disease with the p. Arg227Ter (p.R227*) mutation in Finland: Fast study by Päivi Pietilä‐Effati, Jukka T. Saarinen, Eliisa Löyttyniemi, Reijo Autio, Maria Saarenhovi, Maria K. Haanpää, Ilkka Kantola

Get full text

Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic <i>TMC1</i> Variants by Minna Kraatari-Tiri, Maria K. Haanpää, Tytti Willberg, Pia Pohjola, Riikka Keski-Filppula, Outi Kuismin, Jukka S. Moilanen, Sanna Häkli, Elisa Rahikkala

Get full text

PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals by Antje Kampmeier, Elsa Leitão, Ilaria Parenti, Jasmin Beygo, Christel Depienne, Nuria C Bramswig, Tzung-Chien Hsieh, Alexandra Afenjar, Stefanie Beck-Wödl, Ute Grasshoff, Tobias B Haack, Emilia K Bijlsma, Claudia Ruivenkamp, Eva Lausberg, Miriam Elbracht, Maria K Haanpää, Maria K Haanpää, Hannele Koillinen, Hannele Koillinen, Uwe Heinrich, Imma Rost, Rami Abou Jamra, Denny Popp, Margarete Koch-Hogrebe, Kevin Rostasy, Vanesa López-González, Vanesa López-González, María José Sanchez-Soler, Catarina Macedo, Ariane Schmetz, Carmen Steinborn, Sabine Weidensee, Hellen Lesmann, Felix Marbach, Pilar Caro, Christian P. Schaaf, Peter Krawitz, Dagmar Wieczorek, Dagmar Wieczorek, Frank J Kaiser, Frank J Kaiser, Alma Kuechler, Alma Kuechler

Get full text