Resultats de la cerca - Riikka Keski‐Filppula

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  1. 1
    ADA2 deficiency: Clonal lymphoproliferation in a subset of patients

    ADA2 deficiency: Clonal lymphoproliferation in a subset of patients per Luca Trotta, Timi Martelius, Timo Siitonen, Timo Hautala, Sari Hämäläinen, Hanna Juntti, Mervi Taskinen, Mette Ilander, Emma Andersson, Andrey V. Zavialov, Meri Kaustio, Riikka Keski‐Filppula, Michael S. Hershfield, Satu Mustjoki, Terhi Tapiainen, Mikko Seppänen, Janna Saarela

    Publicat 2018
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  2. 2
    Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland

    Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland per Mitja Kurki, Elmo Saarentaus, Olli Pietiläinen, Padhraig Gormley, Dennis Lal, Sini Kerminen, Minna Torniainen‐Holm, Eija Hämäläinen, Elisa Rahikkala, Riikka Keski‐Filppula, Merja Rauhala, Satu Korpi-Heikkilä, Jonna Komulainen‐Ebrahim, Heli Helander, Päivi Vieira, Minna Männikkö, Markku Peltonen, Aki S. Havulinna, Veikko Salomaa, Matti Pirinen, Jaana Suvisaari, Jukka S. Moilanen, Jarmo Körkkö, Outi Kuismin, Mark J. Daly, Aarno Palotie

    Publicat 2019
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  3. 3
    Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

    Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy per Mikko Muona, Ryosuke Ishimura, Anni Laari, Yoshinobu Ichimura, Tarja Linnankivi, Riikka Keski‐Filppula, Riitta Herva, Heikki Rantala, Anders Paetau, Minna Pöyhönen, Miki Obata, Takefumi Uemura, Thomas Karhu, Norihisa Bizen, Hirohide Takebayashi, Shane McKee, Michael Parker, Nadia Akawi, Jeremy F. McRae, Matthew E. Hurles, Outi Kuismin, Mitja Kurki, Anna‐Kaisa Anttonen, Keiji Tanaka, Aarno Palotie, Satoshi Waguri, Anna‐Elina Lehesjoki, Masaaki Komatsu

    Publicat 2016
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  4. 4
    Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis

    Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis per Johanna Tommiska, Johanna Känsäkoski, Lasse Skibsbye, Kirsi Vaaralahti, Xiaonan Liu, Emily J. Lodge, Chuyi Tang, Lei Yuan, Rainer Fagerholm, Jørgen K. Kanters, Päivi Lahermo, Mari Kaunisto, Riikka Keski‐Filppula, Sanna Vuoristo, Kristiina Pulli, Tapani Ebeling, Leena Valanne, Eeva‐Marja Sankila, Sirpa Kivirikko, Mitja Lääperi, Filippo Casoni, Paolo Giacobini, Franziska Phan-Hug, Tal Buki, Manuel Tena‐Sempere, Nelly Pitteloud, Riitta Veijola, Marita Lipsanen‐Nyman, Kari Kaunisto, Patrice Mollard, Cynthia L. Andoniadou, Joel A. Hirsch, Markku Varjosalo, Thomas Jespersen, Taneli Raivio

    Publicat 2017
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  5. 5
    Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

    Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis per Renzo Guerrini, Davide Mei, Katalin Kerti‐Szigeti, Sara Pepe, Mary Kay Koenig, Gretchen Von Allmen, Megan T Cho, Kimberly S. McDonald, Janice Baker, Vikas Bhambhani, Zöe Powis, Lance H. Rodan, Rima Nabbout, Giulia Barcia, Jill A. Rosenfeld, Carlos A. Bacino, Cyril Mignot, L. Power, Catharine Harris, Dragan Marjanović, Rikke S. Møller, Trine Bjørg Hammer, Riikka Keski Filppula, Päivi Vieira, Clara Hildebrandt, Stephanie Sacharow, Luca Maragliano, Fabio Benfenati, Katherine Lachlan, Andreas Benneche, Florence Petit, Jean Madeleine de Sainte Agathe, Barbara Hallinan, Yue Si, Ingrid M. Wentzensen, Fanggeng Zou, Vinodh Narayanan, Naomichi Matsumoto, Alessandra Boncristiano, Giancarlo la Marca, Mitsuhiro Kato, Kristin Anderson, Carmen Barba, Luisa Sturiale, Domenico Garozzo, Roberto Bei, Laura Masuelli, Valerio Conti, Gaia Novarino, Anna Fassio

    Publicat 2022
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  6. 6
    Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

    Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies per Peer Arts, Annet Simons, Mofareh AlZahrani, Elanur Yılmaz, Eman AlIdrissi, Koen van Aerde, Njood Alenezi, Hamza AlGhamdi, Hadeel AlJubab, Abdulrahman Al‐Hussaini, Fahad AlManjomi, Alaa Alsaad, Badr Alsaleem, Abdulrahman Andijani, Ali Asery, Walid Ballourah, Chantal P. Bleeker‐Rovers, Marcel van Deuren, Michiel van der Flier, Erica H. Gerkes, Christian Gilissen, Murad Habazi, Jayne Y. Hehir‐Kwa, Stefanie Henriet, Esther Hoppenreijs, Sarah Hortillosa, Chantal Kerkhofs, Riikka Keski‐Filppula, Stefan H. Lelieveld, Khurram Lone, Marius MacKenzie, Arjen R. Mensenkamp, Jukka S. Moilanen, Marcel Nelen, Jaap ten Oever, Judith Potjewijd, Pieter van Paassen, Janneke Schuurs-Hoeijmakers, Anna Simon, Tomasz Stokowy, Maartje van de Vorst, Maaike Vreeburg, Anja Wagner, Gijs T. J. van Well, Dimitra Zafeiropoulou, Evelien Zonneveld‐Huijssoon, Joris A. Veltman, Wendy A.G. van Zelst–Stams, Eissa Faqeih, Frank L. van de Veerdonk, Mihai G. Netea, Alexander Hoischen

    Publicat 2019
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