학술논문
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'학술논문'
에서 검색결과 91건 | 목록
1~20
Academic Journal
Lea Urpa; Mitja I. Kurki; Elisa Rahikkala; Eija Hämäläinen; Veikko Salomaa; Jaana Suvisaari; Riikka Keski-Filppula; Merja Rauhala; Satu Korpi-Heikkilä; Jonna Komulainen-Ebrahim; Heli Helander; Päivi Vieira; Johanna Uusimaa; Jukka S. Moilanen; Jarmo Körkkö; Tarjinder Singh; Outi Kuismin; Olli Pietiläinen; Aarno Palotie; Mark J. Daly
Eur J Hum Genet
Academic Journal
Arts, Rob J.W. ; Bijker, Else M. ; Bruno, Mariolina ; Hobo, Willemijn ; Hoppenreijs, Esther ; de Jonge, Marien I. ; van Laarhoven, Arjan ; van der Molen, Renate ; Oud, Manon ; Schatorje, Ellen J.H. ; Smeets, Ruben ; Sprenkeler, Evelien G.G. ; Stol, Kim ; Verhagen, Lilly M. ; Zonneveld-Huijssoon, Evelien ; Vorsteveld, Emil E. ; Van der Made, Caspar I. ; Smeekens, Sanne P. ; Schuurs-Hoeijmakers, Janneke H. ; Astuti, Galuh ; Diepstra, Heleen ; Gilissen, Christian ; Hoenselaar, Evelien ; Janssen, Alice ; van Roozendaal, Kees ; Engelen, Jettie Sikkema-van ; Steyaert, Wouter ; Weiss, Marjan M. ; Yntema, Helger G. ; Mantere, Tuomo ; AlZahrani, Mofareh S. ; van Aerde, Koen ; Derfalvi, Beata ; Faqeih, Eissa Ali ; Henriet, Stefanie S.V. ; van Hoof, Elise ; Idressi, Eman ; Issekutz, Thomas B. ; Jongmans, Marjolijn C.J. ; Keski-Filppula, Riikka ; Krapels, Ingrid ; te Loo, Maroeska ; Mulders-Manders, Catharina M. ; ten Oever, Jaap ; Potjewijd, Judith ; Sarhan, Nora Tarig ; Slot, Marjan C. ; Terhal, Paulien A. ; Thijs, Herman ; Vandersteen, Anthony ; Vanhoutte, Els K. ; van de Veerdonk, Frank ; van Well, Gijs ; Netea, Mihai G. ; Simons, Annet ; Hoischen, Alexander
In Clinical Immunology November 2024 268
Academic Journal
Emil E. Vorsteveld; Caspar I. Van der Made; Sanne P. Smeekens; Janneke H. Schuurs-Hoeijmakers; Galuh Astuti; Heleen Diepstra; Christian Gilissen; Evelien Hoenselaar; Alice Janssen; Kees van Roozendaal; Jettie Sikkema-van Engelen; Wouter Steyaert; Marjan M. Weiss; Helger G. Yntema; Tuomo Mantere; Mofareh S. AlZahrani; Koen van Aerde; Beata Derfalvi; Eissa Ali Faqeih; Stefanie S.V. Henriet; Elise van Hoof; Eman Idressi; Thomas B. Issekutz; Marjolijn C.J. Jongmans; Riikka Keski-Filppula; Ingrid Krapels; Maroeska te Loo; Catharina M. Mulders-Manders; Jaap ten Oever; Judith Potjewijd; Nora Tarig Sarhan; Marjan C. Slot; Paulien A. Terhal; Herman Thijs; Anthony Vandersteen; Els K. Vanhoutte; Frank van de Veerdonk; Gijs van Well; Mihai G. Netea; Annet Simons; Alexander Hoischen
Academic Journal
Renzo Guerrini; Davide Mei; Katalin Kerti-Szigeti; Sara Pepe; Mary Kay Koenig; Gretchen Von Allmen; Megan T Cho; Kimberly McDonald; Janice Baker; Vikas Bhambhani; Zöe Powis; Lance Rodan; Rima Nabbout; Giulia Barcia; Jill A Rosenfeld; Carlos A Bacino; Cyril Mignot; Lillian H Power; Catharine J Harris; Dragan Marjanovic; Rikke S Møller; Trine B 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
Brain
145 (2022): 2687–2703. doi:10.1093/brain/awac145
info:cnr-pdr/source/autori:Guerrini, Renzof; Mei, Davide; Kerti-Szigeti, Katalin; Pepe, Sara; Koenig, Mary Kay; Von Allmen, Gretchen; Cho, Megan T.; McDonald, Kimberly; Baker, Janice; Bhambhani, Vikas; Powis, Zoe; Rodan, Lance; Nabbout, Rima; Barcia, Giulia; Rosenfeld, Jill A.; Bacino, Carlos A.; Mignot, Cyril; Power, Lillian H.; Harris, Catharine J.; Marjanovic, Dragan; Moller, Rikke S.; Hammer, Trine B.;Keski Filppula , Riikka ; Vieira, Paivi; Hildebrandt, Clara; Sacharow, Stephanie; Maragliano, Luca; Benfenati, Fabio; Lachlan, Katherine; Benneche, Andreas; Petit, Florence; de Sainte Agathe, Jean-Madeleine; Hallinan, Barbara; Si, Yue; Wentzensen, Ingrid M.; Zou, Fanggeng; Narayanan, Vinodh; Matsumoto, Naomichi; Boncristiano, Alessandra; la Marca, Giancarlo; Kato, Mitsuhiro; Anderson, Kristin; Barba, Carmen; Sturiale, Luisa; Garozzo, Domenico; Bei, Roberto; Masuelli, Laura; Conti, Valerio; Novarino, Gaia; Fassio, Anna/titolo:Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis/doi:10.1093%2Fbrain%2Fawac145/rivista:Brain (Print)/anno:2022/pagina_da:2687/pagina_a:2703/intervallo_pagine:2687–2703/volume:145
145 (2022): 2687–2703. doi:10.1093/brain/awac145
info:cnr-pdr/source/autori:Guerrini, Renzof; Mei, Davide; Kerti-Szigeti, Katalin; Pepe, Sara; Koenig, Mary Kay; Von Allmen, Gretchen; Cho, Megan T.; McDonald, Kimberly; Baker, Janice; Bhambhani, Vikas; Powis, Zoe; Rodan, Lance; Nabbout, Rima; Barcia, Giulia; Rosenfeld, Jill A.; Bacino, Carlos A.; Mignot, Cyril; Power, Lillian H.; Harris, Catharine J.; Marjanovic, Dragan; Moller, Rikke S.; Hammer, Trine B.;
Academic Journal
Päivi Vieira; Irina I. Nagy; Elisa Rahikkala; Marja‐Leena Väisänen; Katariina Latva; Kari Kaunisto; Pekka Valmari; Riikka Keski‐Filppula; Maria K. Haanpää; Virpi Sidoroff; Päivi J. Miettinen; Tuula Arkkola; Marja Ojaniemi; Matti Nuutinen; Johanna Uusimaa; Päivi Myllynen
Journal of Inherited Metabolic Disease. 45:223-234
Academic Journal
Knuutinen, Oula; Pyle, Angela; Suo-Palosaari, Maria; Duff, Jennifer; Froukh, Tawfiq; Lehesjoki, Anna-Elina; Kangas, Salla M; Cassidy, James; Maraqa, Latifa; Keski-Filppula, Riikka; Kokkonen, Hannaleena; Uusimaa, Johanna; Horvath, Rita; Vieira, Päivi
Clinical Genetics. 98:493-498
Academic Journal
Nora Pernaa; Salla Keskitalo; Iftekhar Chowdhury; Antti Nissinen; Virpi Glumoff; Riikka Keski-Filppula; Juhani Junttila; Kari K. Eklund; Wenny Santaniemi; Sanna Siitonen; Mikko RJ. Seppänen; Paula Vähäsalo; Markku Varjosalo; Pirjo Åström; Timo Hautala
Frontiers in Immunology, Vol 13 (2022)
Academic Journal
Koivunen, J. (Jarkko); Kemppainen, A. V. (Antti V.); Finnilä, M. A. (Mikko A.); Keski-Filppula, R. (Riikka); Härönen, H. (Heli); Tu, H. (Hongmin); Pellikka, H. (Henri); Heikkinen, A. (Anne); Kylmäoja, E. (Elina); Sormunen, R. (Raija); Miinalainen, I. (Ilkka); Saarakkala, S. (Simo); Izzi, V. (Valerio); Pihlajaniemi, T. (Taina)
Matrix Biology. 83:6-25
Academic Journal
Clinical Oral Investigations. 23:4107-4111
Academic Journal
Peer Arts; Annet Simons; Mofareh S. AlZahrani; Elanur Yilmaz; Eman AlIdrissi; Koen J. van Aerde; Njood Alenezi; Hamza A. AlGhamdi; Hadeel A. AlJubab; Abdulrahman A. Al-Hussaini; Fahad AlManjomi; Alaa B. Alsaad; Badr Alsaleem; Abdulrahman A. Andijani; Ali Asery; Walid Ballourah; Chantal P. Bleeker-Rovers; Marcel van Deuren; Michiel van der Flier; Erica H. Gerkes; Christian Gilissen; Murad K. Habazi; Jayne Y. Hehir-Kwa; Stefanie S. Henriet; Esther P. Hoppenreijs; Sarah Hortillosa; Chantal H. Kerkhofs; Riikka Keski-Filppula; Stefan H. Lelieveld; Khurram Lone; Marius A. MacKenzie; Arjen R. Mensenkamp; Jukka Moilanen; Marcel Nelen; Jaap ten Oever; Judith Potjewijd; Pieter van Paassen; Janneke H. M. 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 A. Faqeih; Frank L. van de Veerdonk; Mihai G. Netea; Alexander Hoischen
Genome Medicine, Vol 11, Iss 1, Pp 1-15 (2019)
Academic Journal
Maia, Nuno; Ibarluzea, Nekane; Misra-Isrie, Mala; Koboldt, Daniel C.; Marques, Isabel; Soares, Gabriela; Santos, Rosário; Marcelis, Carlo L. M.; Keski-Filppula, Riikka; Guitart, Maria; Gabau, Elisabeth; Lehman, April; Hickey, Scott; Mori, Mari; Terhal, Paulien; Valenzuela, Irene; Lasa-Aranzasti, Amaia; Cueto-González, Anna Mª; Chhouk, Brian H.; Yeh, Rebecca C.; Neil, Jennifer E.; Abu-Libde, Bassam; Kleefstra, Tjitske; Elting, Mariet W.; Császár, Andrea; Kárteszi, Judit; Bessenyei, Beáta; van Bokhoven, Hans; Jorge, Paula; van Hagen, Johanna M.; de Brouwer, Arjan P. M.; Universitat Autònoma de Barcelona
Academic Journal
Guerrini, R. (Renzo); Mei, D. (Davide); Kerti-Szigeti, K. (Katalin); Pepe, S. (Sara); Koenig, M. K. (Mary Kay); Von Allmen, G. (Gretchen); Cho, M. T. (Megan T); McDonald, K. (Kimberly); Baker, J. (Janice); Bhambhani, V. (Vikas); Powis, Z. (Zöe); Rodan, L. (Lance); Nabbout, R. (Rima); Barcia, G. (Giulia); Rosenfeld, J. A. (Jill A); Bacino, C. A. (Carlos A); Mignot, C. (Cyril); Power, L. H. (Lillian H); Harris, C. J. (Catharine J); Marjanovic, D. (Dragan); Møller, R. S. (Rikke S); Hammer, T. B. (Trine B); T. D. (The DDD Study); Keski Filppula, R. (Riikka); Vieira, P. (Päivi); Hildebrandt, C. (Clara); Sacharow, S. (Stephanie); U. D. (Undiagnosed Diseases Network); Maragliano, L. (Luca); Benfenati, F. (Fabio); Lachlan, K. (Katherine); Benneche, A. (Andreas); Petit, F. (Florence); de Sainte Agathe, J. M. (Jean Madeleine); Hallinan, B. (Barbara); Si, Y. (Yue); Wentzensen, I. M. (Ingrid M); Zou, F. (Fanggeng); Narayanan, V. (Vinodh); Matsumoto, N. (Naomichi); Boncristiano, A. (Alessandra); la Marca, G. (Giancarlo); Kato, M. (Mitsuhiro); Anderson, K. (Kristin); Barba, C. (Carmen); Sturiale, L. (Luisa); Garozzo, D. (Domenico); Bei, R. (Roberto); A. c. (ATP6V1A collaborators); Masuelli, L. (Laura); Conti, V. (Valerio); Novarino, G. (Gaia); Fassio, A. (Anna)
Academic Journal
Trotta, Luca, MSc; Martelius, Timi, PhD; Siitonen, Timo, PhD; Hautala, Timo, PhD; Hämäläinen, Sari, PhD; Juntti, Hanna, PhD; Taskinen, Mervi, PhD; Ilander, Mette, PhD; Andersson, Emma Irene, PhD; Zavialov, Andrey, PhD; Kaustio, Meri, MSc; Keski-Filppula, Riikka, PhD; Hershfield, Michael, PhD; Mustjoki, Satu, PhD; Tapiainen, Terhi, PhD; Seppänen, Mikko, PhD; Saarela, Janna, PhD
The Journal of Allergy and Clinical Immunology. 141(4):1534-1537
Academic Journal
Vieira, Päivi ; Cameron, Jessie ; Rahikkala, Elisa ; Keski-Filppula, Riikka ; Zhang, Lin-Hua ; Santra, Saikat ; Matthews, Allison ; Myllynen, Päivi ; Nuutinen, Matti ; Moilanen, Jukka S. ; Rodenburg, Richard J. ; Rolfs, Arndt ; Uusimaa, Johanna ; van Karnebeek, Clara D.M.
In Molecular Genetics and Metabolism April 2017 120(4):337-341
Academic Journal
Mitja I. 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
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
Academic Journal
Tuominen Hannu; Uusimaa Johanna Maria; Risteli Leila Tuulikki; Myllynen Päivi Kyllikki; Vieira Päivi Maria; Keski-Filppula Riikka; Uusimaa Johanna; Perhomaa Marja; Myllynen Päivi; Vieira Päivi; Rytky Seppo
Neuropediatrics. 48:194-198
Academic Journal
Muona, Mikko; Ishimura, Ryosuke; Laari, Anni; Ichimura, Yoshinobu; Linnankivi, Tarja; Keski-Filppula, Riikka; Herva, Riitta; Rantala, Heikki; Paetau, Anders; Pöyhönen, Minna; Obata, Miki; Uemura, Takefumi; Karhu, Thomas; Bizen, Norihisa; Takebayashi, Hirohide; McKee, Shane; Parker, Michael J.; Akawi, Nadia; McRae, Jeremy; Hurles, Matthew E.; Kuismin, Outi; Kurki, Mitja I.; Anttonen, Anna-Kaisa; Tanaka, Keiji; Palotie, Aarno; Waguri, Satoshi; Lehesjoki, Anna-Elina; Komatsu, Masaaki
The American Journal of Human Genetics. 99:683-694
Academic Journal
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
Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)
Academic Journal
Paula, Widgren; Anri, Hurme; Aura, Falck; Riikka, Keski-Filppula; Anne M, Remes; Jukka, Moilanen; Kari, Majamaa; Marko, Kervinen; Johanna, Uusimaa
Acta Ophthalmologica. 94:83-91
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