Natural course of Fabry disease with the p. Arg227Ter (p.R227*) mutation in Finland: Fast study

por Pietilä‐Effati, Päivi, Saarinen, Jukka T., Löyttyniemi, Eliisa, Autio, Reijo, Saarenhovi, Maria, Haanpää, Maria K., Kantola, Ilkka
Publicado 2019

Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants

por Kraatari-Tiri, Minna, Haanpää, Maria K., Willberg, Tytti, Pohjola, Pia, Keski-Filppula, Riikka, Kuismin, Outi, Moilanen, Jukka S., Häkli, Sanna, Rahikkala, Elisa
Publicado 2022

An ARHGAP25 variant links aberrant Rac1 function to early‐onset skeletal fragility

por Mäkitie, Riikka E., Henning, Petra, Jiu, Yaming, Kämpe, Anders, Kogan, Konstantin, Costantini, Alice, Välimäki, Ville‐Valtteri, Medina‐Gomez, Carolina, Pekkinen, Minna, Salusky, Isidro B., Schalin‐Jäntti, Camilla, Haanpää, Maria K., Rivadeneira, Fernando, Bassett, John H. Duncan, Williams, Graham R., Lerner, Ulf H., Pereira, Renata C., Lappalainen, Pekka, Mäkitie, Outi
Publicado 2021

PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals

por Kampmeier, Antje, Leitão, Elsa, Parenti, Ilaria, Beygo, Jasmin, Depienne, Christel, Bramswig, Nuria C, Hsieh, Tzung-Chien, Afenjar, Alexandra, Beck-Wödl, Stefanie, Grasshoff, Ute, Haack, Tobias B, Bijlsma, Emilia K, Ruivenkamp, Claudia, Lausberg, Eva, Elbracht, Miriam, Haanpää, Maria K, Koillinen, Hannele, Heinrich, Uwe, Rost, Imma, Jamra, Rami Abou, Popp, Denny, Koch-Hogrebe, Margarete, Rostasy, Kevin, López-González, Vanesa, Sanchez-Soler, María José, Macedo, Catarina, Schmetz, Ariane, Steinborn, Carmen, Weidensee, Sabine, Lesmann, Hellen, Marbach, Felix, Caro, Pilar, Schaaf, Christian P., Krawitz, Peter, Wieczorek, Dagmar, Kaiser, Frank J, Kuechler, Alma
Publicado 2023

Natural history of KBG syndrome in a large European cohort

por Loberti, Lorenzo, Bruno, Lucia Pia, Granata, Stefania, Doddato, Gabriella, Resciniti, Sara, Fava, Francesca, Carullo, Michele, Rahikkala, Elisa, Jouret, Guillaume, Menke, Leonie A, Lederer, Damien, Vrielynck, Pascal, Ryba, Lukáš, Brunetti-Pierri, Nicola, Lasa-Aranzasti, Amaia, Cueto-González, Anna Maria, Trujillano, Laura, Valenzuela, Irene, Tizzano, Eduardo F, Spinelli, Alessandro Mauro, Bruno, Irene, Currò, Aurora, Stanzial, Franco, Benedicenti, Francesco, Lopergolo, Diego, Santorelli, Filippo Maria, Aristidou, Constantia, Tanteles, George A, Maystadt, Isabelle, Tkemaladze, Tinatin, Reimand, Tiia, Lokke, Helen, Õunap, Katrin, Haanpää, Maria K, Holubová, Andrea, Zoubková, Veronika, Schwarz, Martin, Žordania, Riina, Muru, Kai, Roht, Laura, Tihveräinen, Annika, Teek, Rita, Thomson, Ulvi, Atallah, Isis, Superti-Furga, Andrea, Buoni, Sabrina, Canitano, Roberto, Scandurra, Valeria, Rossetti, Annalisa, Grosso, Salvatore, Battini, Roberta, Baldassarri, Margherita, Mencarelli, Maria Antonietta, Rizzo, Caterina Lo, Bruttini, Mirella, Mari, Francesca, Ariani, Francesca, Renieri, Alessandra, Pinto, Anna Maria
Publicado 2022