Rezultaty - Maria Haanpaa

Report of a novel missense mutation in the MECP2 gene in a middle‐aged man with intellectual disability syndrome od Maria Arvio, Maria Haanpää, Pia Pohjola, Jaana Lähdetie

Dokumenty pełnotekstowe

Screening for Mutations in Isolated Central Hypothyroidism Reveals a Novel Mutation in Insulin Receptor Substrate 4 od Konrad Patyra, Konrad Patyra, Kristiina Makkonen, Kristiina Makkonen, Maria Haanpää, Maria Haanpää, Sinikka Karppinen, Liisa Viikari, Jorma Toppari, Jorma Toppari, Jorma Toppari, Mary Pat Reeve, Jukka Kero, Jukka Kero, Jukka Kero

Dokumenty pełnotekstowe

At the extreme limits of L-DOPA therapy: probable dopamine dysregulation and psychiatric complications in Parkinson’s disease od Andrew John Lees, Jaana Rönkä, Valtteri Kaasinen, Niko Oikarinen, Emma Ottela, Maria Haanpää, Solja Niemelä

Dokumenty pełnotekstowe

P181: Prenatal-onset hypertrophic cardiomyopathy in 54 patients with RASopathies: Understanding phenotype-genotype correlations for risk stratification, medical management and targ... od Guillaume Jouret, Dominik Brado, Jeroen Breckpot, Davide Vecchio, Mélanie Fradin, Irene Valenzuala, Paula Fernandez, Nuria Martinez, Fabio Sirchia, Alessandro Mussa, Federico Fornari, Jacqueline Aziza, Maria Isis Atallah Gonzalez, Fanny Laffargue, Gueneret Michele, Adela Chirita, Mathilde Nizon, Philippe Khau Van Kien, Francesca Mari, Anna Carrer, Maria Haanpaa, Caroline Rooryck-Thambo, Claire Beneteau, Jean-Baptiste Ichtertz, Marie Bournez, Juliette Dupont, Atilano Carcavilla, Lucia Deiros, Emikarina Rikeros, Maria De Los Angeles Gomez, Maude Grelet, Laetitia Lambert, Lucas Hérissant, Viorica Ciorna, Arthur Sorlin, Rodolphe Dard, Abdelkader Heddar, Jean-Paul Hermand, Didier Menzies

Dokumenty pełnotekstowe

The Nordic ChiCaP Network: An interdisciplinary approach to childhood cancer predisposition od Fulya Taylan, Joel Janhonen, Katja Ekholm, Svetlana Bajalica-Lagercrantz, Stefan Becker, Andreas Benneche, Patrick Cairns, Åsa Grauman, Maria Haanpää, Ole Haubjerg Nielsen, Hildegunn Høberg Vetti, Lauge Holm Sørensen, Bushra Ishaq, Kirsi Jahnukainen, Andreina Kero, Ida Katrine Knapstad, Laura S. Korhonen, Ekaterina Kuchinskaya, Kristina Lagerstedt-Robinson, Hanne C. Lie, Gustaf Ljungman, Carolina Maya-González, Saara Nolvi, Kristiina Nordfors, Thale Kristin Olsen, Sara Orrsjö, Anna Poluha, Kjeld Schmiegelow, Ulrik Kristoffer Stoltze, Sonja Strang-Karlsson, Alexander Sun Zhang, Bianca Tesi, Giorgio Tettamanti, Emma Tham, Alexandra Wachtmeister, Karin A.W. Wadt, Ayo Wahlberg, Teresia Wangensteen, Joakim Wille, Monica Cheng Munthe-Kaas, Ann Nordgren

Dokumenty pełnotekstowe