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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
- Nashabat, Marwan
- Nabavizadeh, Nasrinsadat
- Saraçoğlu, Hilal Pırıl
- Sarıbaş, Burak
- Avcı, Şahin
- Börklü, Esra
- Beillard, Emmanuel
- Yılmaz, Elanur
- Uygur, Seyide Ecesu
- Kayhan, Cavit Kerem
- Bosco, Luca
- Eren, Zeynep Bengi
- Steindl, Katharina
- Richter, Manuela Friederike
- Bademci, Guney
- Rauch, Anita
- Fattahi, Zohreh
- Valentino, Maria Lucia
- Connolly, Anne M
- Bahr, Angela
- Viola, Laura
- Bergmann, Anke Katharina
- Rocha, Maria Eugenia
- Peart, LeShon
- Castro-Rojas, Derly Liseth
- Bültmann, Eva
- Khan, Suliman
- Giarrana, Miriam Liliana
- Teleanu, Raluca Ioana
- Gonzalez, Joanna Michelle
- Pini, Antonella
- Schädlich, Ines Sophie
- Vill, Katharina
- Brugger, Melanie
- Zuchner, Stephan
- Pinto, Andreia
- Donkervoort, Sandra
- Bivona, Stephanie Ann
- Riza, Anca
- Streata, Ioana
- Gläser, Dieter
- Baquero-Montoya, Carolina
- Garcia-Restrepo, Natalia
- Kotzaeridou, Urania
- Brunet, Theresa
- Epure, Diana Anamaria
- Bertoli-Avella, Aida
- Kariminejad, Ariana
- Tekin, Mustafa
- von Hardenberg, Sandra
- Bönnemann, Carsten G
- Stettner, Georg M
- Zanni, Ginevra
- Kayserili, Hülya
- Oflazer, Zehra Piraye
- Escande-Beillard, Nathalie
2024
Link zum Volltext
British journal of cancer, 2024-02, Vol.130 (3), p.417-424
- Postel-Vinay, Sophie
- Coves, Juan
- Texier, Matthieu
- Aldea, Mihaela
- Gazzah, Anas
- Dómine, Manuel
- Planchard, David
- De Las Peñas, Ramon
- Sala Gonzalez, Ma Angeles
- Viteri, Santiago
- Perez, Javier
- Ortega, Ana Laura
- Moran, Teresa
- Camps, Carlos
- Lopez-Martin, Ana
- Provencio, Mariano
- Soria, Jean-Charles
- Besse, Benjamin
- Massuti, Bartomeu
- Rosell, Rafael
2024
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Canadian Medical Association journal (CMAJ), 2024-02, Vol.196 (6), p.E177
- Chen, Yue
- MacIsaac, Sarah
- Young, Matthew
- Ahodakin, Marlene
- Jeagal, Luke Wan
- Boucher, Maryse
- Agulnik, Jason
- Boulanger, Nathalie
- Camilleri-Broët, Sophie
- Ezer, Nicole
- Gonzalez, Anne V
- Owen, Scott
- Pepe, Carmela
- Spicer, Jonathan
- Wang, Hangjun
- White-Dupuis, Shirley
- Watt, Larry
- Grey, Minnie
- Benedetti, Andrea
- Khan, Faiz Ahmad
2024
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Cell, 2024-02, Vol.187 (4), p.814-830.e23
2024
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The Lancet (British edition), 2024-02, Vol.403 (10426), p.545-553
- Rial-Crestelo, Marta
- Lubusky, Marek
- Parra-Cordero, Mauro
- Krofta, Ladislav
- Kajdy, Anna
- Zohav, Eyal
- Ferriols-Perez, Elena
- Cruz-Martinez, Rogelio
- Kacerovsky, Marian
- Scazzocchio, Elena
- Roubalova, Lucie
- Socias, Pamela
- Hašlík, Lubomir
- Modzelewski, Jan
- Ashwal, Eran
- Castellá-Cesari, Julia
- Cruz-Lemini, Monica
- Gratacos, Eduard
- Figueras, Francesc
- Cancemi, Annalisa
- Giannone, Mariella
- Velasco-Santiago, Ana Rosy
- Sánchez-Hoyo, Beatriz
- Izquierdo-Sánchez, Nora
- Cobos-Serrano, Cristina
- Matías-Ponce, Sonia
- Mayordomo-Gallardo, Sonia
- Castejón-Abad, Alicia
- Martinez-Portilla, Raigam-Jafet
- Crespo-Mirasol, Esther
- España-Calancha, Carmen
- Lorente-Silva, Beatriz
- Herrera-Julve, Marta
- Astudillo-Alonso, Rocío
- Bianchi, Ilaria
- Biterna-Tejeiro, Alex
- Kroutilova, Vladimira
- Kolarova, Veronika
- Hermanova, Katerina
- Durdova, Veronika
- Kratochvilova, Tereza
- Maderkova-Tozzi, Michaela
- Sepulveda-Martinez, Álvaro
- Aravena, Luis
- Urquieta, Javiera
- Macková, Katerina
- Brandejsová, Anna
- Jakubiak-Proć, Monika
- Dorota, Sys
- Muzyka-Placzyńska, Katarzyna
- Rabijewski, Michal
- Mazur, Beata
- Jóźwiak, Lucasz
- Filipecka-Tyczka, Dagmara
- Berbeka, Krzysztof
- Pydyś, Lucasz
- Gull, Ilan
- Krajden Haratz, Nina
- Malinger, Gustavo
- Hernández-Sánchez, José-Luis
- Prat-Om, María
- Rubio-Salazar, Ricardo
- Rueda-García, Carolina
- López-Yarto-Elejabeitia, Maite
- Diaz-Rodríguez, Paula-Daniela
- Payà-Panadés, Antoni
- Buob, Sophie
- Ros-de-los-Santos, Erika
- Garriga-Parra, Andrea
- Sastre-Cuadri, Margalida-Esperanza
- Martínez-Rodríguez, Miguel
- Villalobos-Gómez, Rosa
- López-Briones, Hugo
- Chávez-González, Eréndira
2024
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European journal of public health, 2024-02, Vol.34 (1), p.44-51
- García-Lorenzo, Borja
- Gorostiza, Ania
- Alayo, Itxaso
- Castelo Zas, Susana
- Cobos Baena, Patricia
- Gallego Camiña, Inés
- Izaguirre Narbaiza, Begoña
- Mallabiabarrena, Gaizka
- Ustarroz-Aguirre, Iker
- Rigabert, Alina
- Balzi, William
- Maltoni, Roberta
- Massa, Ilaria
- Álvarez López, Isabel
- Arévalo Lobera, Sara
- Esteban, Mónica
- Fernández Calleja, Marta
- Gómez Mediavilla, Jenifer
- Fernández, Manuela
- del Oro Hitar, Manuel
- Ortega Torres, María del Carmen
- Sanz Ferrandez, María Consuelo
- Manso Sánchez, Luís
- Serrano Balazote, Pablo
- Varela Rodríguez, Carolina
- Campone, Mario
- Le Lann, Sophie
- Vercauter, Piet
- Tournoy, Kurt
- Borges, Marina
- Oliveira, Ana Sofía
- Soares, Marta
- Fullaondo, Ane
2024
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European journal of heart failure, 2024-02, Vol.26 (2), p.483-501
- Mullens, Wilfried
- Dauw, Jeroen
- Gustafsson, Finn
- Mebazaa, Alexandre
- Steffel, Jan
- Witte, Klaus K.
- Delgado, Victoria
- Linde, Cecilia
- Vernooy, Kevin
- Anker, Stefan D.
- Chioncel, Ovidiu
- Milicic, Davor
- Hasenfuß, Gerd
- Ponikowski, Piotr
- von Bardeleben, Ralph Stephan
- Koehler, Friedrich
- Ruschitzka, Frank
- Damman, Kevin
- Schwammenthal, Ehud
- Testani, Jeffrey M.
- Zannad, Faiez
- Böhm, Michael
- Cowie, Martin R.
- Dickstein, Kenneth
- Jaarsma, Tiny
- Filippatos, Gerasimos
- Volterrani, Maurizio
- Thum, Thomas
- Adamopoulos, Stamatis
- Cohen‐Solal, Alain
- Moura, Brenda
- Rakisheva, Amina
- Ristic, Arsen
- Bayes‐Genis, Antoni
- Van Linthout, Sophie
- Tocchetti, Carlo Gabriele
- Savarese, Gianluigi
- Skouri, Hadi
- Adamo, Marianna
- Amir, Offer
- Yilmaz, Mehmet Birhan
- Simpson, Maggie
- Tokmakova, Mariya
- González, Arantxa
- Piepoli, Massimo
- Seferovic, Petar
- Metra, Marco
- Coats, Andrew J.S.
- Rosano, Giuseppe M.C.
2024
Link zum Volltext
Journal of medical genetics, 2024-02, Vol.61 (2), p.132
- Szakszon, Katalin
- Lourenco, Charles Marques
- Callewaert, Bert Louis
- Geneviève, David
- Rouxel, Flavien
- Morin, Denis
- Denommé-Pichon, Anne-Sophie
- Vitobello, Antonio
- Patterson, Wesley G
- Louie, Raymond
- Pinto E Vairo, Filippo
- Klee, Eric
- Kaiwar, Charu
- Gavrilova, Ralitza H
- Agre, Katherine E
- Jacquemont, Sebastien
- Khadijé, Jizi
- Giltay, Jacques
- van Gassen, Koen
- Merő, Gabriella
- Gerkes, Erica
- Van Bon, Bregje W
- Rinne, Tuula
- Pfundt, Rolph
- Brunner, Han G
- Caluseriu, Oana
- Grasshoff, Ute
- Kehrer, Martin
- Haack, Tobias B
- Khelifa, Melik Malek
- Bergmann, Anke Katharina
- Cueto-González, Anna Maria
- Martorell, Ariadna Campos
- Ramachandrappa, Shwetha
- Sawyer, Lindsey B
- Fasel, Pascale
- Braun, Dominique
- Isis, Atallah
- Superti-Furga, Andrea
- McNiven, Vanda
- Chitayat, David
- Ahmed, Syed Anas
- Brennenstuhl, Heiko
- Schwaibolf, Eva Mc
- Battisti, Gladys
- Parmentier, Benoit
- Stevens, Servi J C
2024
Link zum Volltext
Scientific data, 2024-01, Vol.11 (1), p.144-144, Article 144
2024
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Frontiers in cellular neuroscience, 2024-01, Vol.17, p.1294746-1294746
2024
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Respiratory research, 2024-01, Vol.25 (1), p.21-21, Article 21
2024
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European journal of cancer (1990), 2024-01, Vol.196, p.113455
- Dayimu, Alimu
- Gupta, Avinash
- Matin, Rubeta N
- Nobes, Jenny
- Board, Ruth
- Payne, Miranda
- Rao, Ankit
- Fusi, Alberto
- Danson, Sarah
- Eccles, Bryony
- Carser, Judith
- Brown, Ciara O'Hanlon
- Steven, Neil
- Bhattacharyya, Madhumita
- Brown, Ewan
- Gonzalez, Michael
- Highley, Martin
- Pickering, Lisa
- Kumar, Satish
- Waterston, Ashita
- Burghel, George
- Demain, Leigh
- Baker, Eleanor
- Wulff, Jerome
- Qian, Wendi
- Twelves, Sophie
- Middleton, Mark
- Corrie, Pippa
2024
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No link between type I interferon autoantibody positivity and adverse reactions to COVID-19 vaccines
2024
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EPJ Web of conferences, 2024, Vol.294, p.03003
2024
Link zum Volltext
Astrophysical journal. Letters, 2024-01, Vol.960 (1), p.L3
- Cadieux, Charles
- Plotnykov, Mykhaylo
- Doyon, René
- Valencia, Diana
- Jahandar, Farbod
- Dang, Lisa
- Turbet, Martin
- Fauchez, Thomas J.
- Cloutier, Ryan
- Cherubim, Collin
- Artigau, Étienne
- Cook, Neil J.
- Edwards, Billy
- Hallatt, Tim
- Charnay, Benjamin
- Bouchy, François
- Allart, Romain
- Mignon, Lucile
- Baron, Frédérique
- Barros, Susana C. C.
- Benneke, Björn
- Canto Martins, B. L.
- Cowan, Nicolas B.
- De Medeiros, J. R.
- Delfosse, Xavier
- Delgado-Mena, Elisa
- Dumusque, Xavier
- Ehrenreich, David
- Frensch, Yolanda G. C.
- González Hernández, J. I.
- Hara, Nathan C.
- Lafrenière, David
- Lo Curto, Gaspare
- Malo, Lison
- Melo, Claudio
- Mounzer, Dany
- Passeger, Vera Maria
- Pepe, Francesco
- Poulin-Girard, Anne-Sophie
- Santos, Nuno C.
- Sosnowska, Danuta
- Suárez Mascareño, Alejandro
- Thibault, Simon
- Vaulato, Valentina
- Wade, Gregg A.
- Wildi, François
2024
Link zum Volltext
European journal of cancer (1990), 2024-01, Vol.196, p.113455-113455, Article 113455
- Dayimu, Alimu
- Gupta, Avinash
- Matin, Rubeta N.
- Nobes, Jenny
- Board, Ruth
- Payne, Miranda
- Rao, Ankit
- Fusi, Alberto
- Danson, Sarah
- Eccles, Bryony
- Carser, Judith
- Brown, Ciara O’Hanlon
- Steven, Neil
- Bhattacharyya, Madhumita
- Brown, Ewan
- Gonzalez, Michael
- Highley, Martin
- Pickering, Lisa
- Kumar, Satish
- Waterston, Ashita
- Burghel, George
- Demain, Leigh
- Baker, Eleanor
- Wulff, Jerome
- Qian, Wendi
- Twelves, Sophie
- Middleton, Mark
- Corrie, Pippa
2024
Link zum Volltext
Nutrients, 2024-01, Vol.16 (2), p.246
2024
Link zum Volltext
Human genetics, 2024, Vol.143 (1), p.71-84
- Schmetz, Ariane
- Lüdecke, Hermann-Josef
- Surowy, Harald
- Sivalingam, Sugirtahn
- Bruel, Ange-Line
- Caumes, Roseline
- Charles, Perrine
- Chatron, Nicolas
- Chrzanowska, Krystyna
- Codina-Solà, Marta
- Colson, Cindy
- Cuscó, Ivon
- Denommé-Pichon, Anne-Sophie
- Edery, Patrick
- Faivre, Laurence
- Green, Andrew
- Heide, Solveig
- Hsieh, Tzung-Chien
- Hustinx, Alexander
- Kleinendorst, Lotte
- Knopp, Cordula
- Kraft, Florian
- Krawitz, Peter M.
- Lasa-Aranzasti, Amaia
- Lesca, Gaetan
- López-González, Vanesa
- Maraval, Julien
- Mignot, Cyril
- Neuhann, Teresa
- Netzer, Christian
- Oehl-Jaschkowitz, Barbara
- Petit, Florence
- Philippe, Christophe
- Posmyk, Renata
- Putoux, Audrey
- Reis, André
- Sánchez-Soler, María José
- Suh, Julia
- Tkemaladze, Tinatin
- Tran Mau Them, Frédéric
- Travessa, André
- Trujillano, Laura
- Valenzuela, Irene
- van Haelst, Mieke M.
- Vasileiou, Georgia
- Vincent-Delorme, Catherine
- Walther, Mona
- Verde, Pablo
- Bramswig, Nuria C.
- Wieczorek, Dagmar
2024
Link zum Volltext
Cell reports. Medicine, 2023-12, Vol.4 (12), p.101339-101339, Article 101339
- Savary, Clara
- Luciana, Léa
- Huchedé, Paul
- Tourbez, Arthur
- Coquet, Claire
- Broustal, Maëlle
- Lopez Gonzalez, Alejandro
- Deligne, Clémence
- Diot, Thomas
- Naret, Olivier
- Costa, Mariana
- Meynard, Nina
- Barbet, Virginie
- Müller, Kevin
- Tonon, Laurie
- Gadot, Nicolas
- Degletagne, Cyril
- Attignon, Valéry
- Léon, Sophie
- Vanbelle, Christophe
- Bomane, Alexandra
- Rochet, Isabelle
- Mournetas, Virginie
- Oliveira, Luciana
- Rinaudo, Paul
- Bergeron, Christophe
- Dutour, Aurélie
- Cordier-Bussat, Martine
- Roch, Aline
- Brandenberg, Nathalie
- El Zein, Sophie
- Watson, Sarah
- Orbach, Daniel
- Delattre, Olivier
- Dijoud, Frédérique
- Corradini, Nadège
- Picard, Cécile
- Maucort-Boulch, Delphine
- Le Grand, Marion
- Pasquier, Eddy
- Blay, Jean-Yves
- Castets, Marie
- Broutier, Laura
2023
Link zum Volltext
Scientific reports, 2023-12, Vol.13 (1), p.22272-22272, Article 22272
2023
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Heredity, 2023-12, Vol.131 (5-6), p.327-337
- Johansen, Margrethe
- Saenko, Suzanne
- Schilthuizen, Menno
- Berriman, Matthew
- Durbin, Richard
- Lawniczak, Mara
- Reeks, Sarah
- Howe, Kerstin
- Holroyd, Nancy
- McKenna, Victoria
- Niu, Haoyu
- Platte, Radka
- Howard, Caroline
- Amaral, Raquel
- Griffiths, Andy
- Mbye, Haddijatou
- Oatley, Graeme
- Prestwood, Liam
- Sampaio, Filipa
- Sheerin, Edel
- Strickland, Michelle
- Todorovic, Maja
- McCarthy, Shane A.
- Krasheninnikova, Ksenia
- Uliano-Silva, Marcela
- Wood, Jonathan
- Chow, Will
- Collins, Joanna
- Eldridge, Camilla
- Paulini, Michael
- Pelan, Sarah
- Pointon, Damon-Lee
- Sims, Ying
- Torrance, James
- Tracey, Alan
- Chapman, Nikki
- Calnan, Sinead
- Haug, Ken
- Heathcote, Robina
- Leech, Chloe
- Monaghan, Jack
- Muffato, Matthieu
- Potter, Sophie
- Ramona, Lauma
- Threlfall, Jonathan
- Varley, Andrew
- Vishwakumar, Amit
- Brown, Max
- Challis, Rich
- Gonzalez, Pablo
- Kieninger, Manuela
- King, Erna
- Kumar, Sujai
- Laumer, Chris
- Stevens, Lewis
- Vancaester, Emmelien
- Weber, Claudia
- Aunin, Eerik
- Reid, Adam
- Blaxter, Mark
- Davison, Angus
2023
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Liver international, 2023-12, Vol.43 (12), p.2776-2793
2023
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Journal of the International Society of Physical and Rehabilitation Medicine, 2023-12, Vol.6 (4), p.83-89
2023
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Environmental science and pollution research international, 2023-12, Vol.31 (1), p.90-108
- Mamy, Laure
- Pesce, Stéphane
- Sanchez, Wilfried
- Aviron, Stéphanie
- Bedos, Carole
- Berny, Philippe
- Bertrand, Colette
- Betoulle, Stéphane
- Charles, Sandrine
- Chaumot, Arnaud
- Coeurdassier, Michael
- Coutellec, Marie-Agnès
- Crouzet, Olivier
- Faburé, Juliette
- Fritsch, Clémentine
- Gonzalez, Patrice
- Hedde, Mickael
- Leboulanger, Christophe
- Margoum, Christelle
- Mougin, Christian
- Munaron, Dominique
- Nélieu, Sylvie
- Pelosi, Céline
- Rault, Magali
- Sucré, Elliott
- Thomas, Marielle
- Tournebize, Julien
- Leenhardt, Sophie
2023
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Inorganic chemistry, 2023-11, Vol.62 (45), p.18338-18356
2023
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