학술논문
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'학술논문'
에서 검색결과 286건 | 목록
1~20
Academic Journal
McCrary, J. Matt; Van Valckenborgh, Els; Horgan, Denis; Aleksandrova, Evgenia; Bargou, Ralf; Behulova, Regina Lohajova; Belina, Ivica; Bohme, Ann Liza Egesberg; Brunet, Joan; Burada, Florin; Chirita-Emandi, Adela; Ciuca, Andrada; Colas, Chrystelle; Constantinidou, Anastasia; Curca, Razvan-Ovidiu; Cursaru, Viorica; Dalmas, Miriam; Daneberga, Zanda; de Azambuja, Evandro; De Pauw, Antoine; De Putter, Robin; Delikurt-Tuncalp, Turem; Donnelly, Deirdre; Ehrencrona, Hans; Foretova, Lenka; Galli, Fabrizia; Genuardi, Maurizio; Giles, Rachel; Grima, Claire; Janavicius, Ramunas; Kaariainen, Helena; Klink, Barbara; Krajc, Mateja; Kufel-Grabowska, Joanna; Lace, Baiba; Leitsalu, Liis; Le Tourneau, Christophe; Lodahl, Marianne; Mari, Francesca; Matos, Erika; Mazzarella, Luca; Milagre, Tamara Hussong; Mistrik, Martin; Moss, Barbara; Nolan, Amy; O'shea, Rosie; Paneque, Milena; Patocs, Attila; Pestoff, Rebecka; Poirel, Helene A.; Risch, Martine; Rodrigues, Manuel; Roetzer, Katharina M.; Ros, Andrea; Schrock, Evelin; Schwaninger, Gunda; Slamova, Lucie; Stamatopoulos, Kostas; Strang-Karlsson, Sonja; Szczaluba, Krzysztof; Szymczak, Virginie; Theis, Philippe; Turner, Jacqueline; Valcina, Olga; Vella, Christopher; Van Zelst-Stams, Wendy A. G.; Wadt, Karin A. W.; Zschocke, Johannes; Ronez, Joelle; Ripperger, Tim; Van Den Bulcke, Marc; Bergmann, Anke Katharina
European Journal of Human Genetics.
Academic Journal
Ślusarczyk, Klaudia ; Kamińska, Julia Zuzanna ; Kuśmierska, Katarzyna ; Czyżyk, Elżbieta ; Łazicka, Magdalena ; Domżał, Kacper ; Rzońca-Niewczas, Sylwia ; Landowska, Aleksandra ; Szczałuba, Krzysztof ; Wertheim-Tysarowska, Katarzyna ; Sykut-Cegielska, Jolanta ; Szymańska, Krystyna ; Drożak, Jakub ; Rygiel, Agnieszka Magdalena
In Molecular Genetics and Metabolism March 2026 147(3)
Academic Journal
Kassabian, Benedetta; Levy, Amanda M.; Gardella, Elena; Aledo-Serrano, Angel; Ananth, Amitha L.; Brea-Fernández, Alejandro J.; Caumes, Roseline; Chatron, Nicolas; Dainelli, Alice; de Wachter, Matthias; Denommé-Pichon, Anne-Sophie; Dye, Thomas J.; Fazzi, Elisa; Felt, Roxanne; Fernández-Jaén, Alberto; Fernández-Prieto, Montse; Gantz, Emily; Gasperowicz, Piotr; Gil-Nagel, Antonio; Gómez-Andrés, David; Greiner, Hansel M.; Guerrini, Renzo; Haanpää, Maria K.; Helin, Minttu; Hoyer, Juliane; Hurst, Anna C. E.; Kallish, Staci; Karkare, Shefali N.; Khan, Amjad; Kleinendorst, Lotte; Koch, Johannes; Kothare, Sanjeev V.; Koudijs, Suzanna M.; Lagae, Lieven; Lakeman, Phillis; Leppig, Kathleen A.; Lesca, Gaetan; Lopergolo, Diego; Lusk, Laina; Mackenzie, Alex; Mei, Davide; Møller, Rikke S.; Pereira, Elaine M.; Platzer, Konrad; Quelin, Chloe; Revah-Politi, Anya; Rheims, Sylvain; Rodríguez-Palmero, Agustí; Rossi, Andrea; Santorelli, Filippo; Seinfeld, Syndi; Sell, Erick; Stephenson, Donna; Szczaluba, Krzysztof; Trinka, Eugen; Umair, Muhammad; van Esch, Hilde; van Haelst, Mieke M.; Veenma, Danielle C. M.; Weber, Sacha; Weckhuysen, Sarah; Zacher, Pia; Tümer, Zeynep; Rubboli, Guido; De Wachter, Matthias; Koudijs, Suzanna V; Van Esch, Hilde
Epilepsia
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Kassabian, B, Levy, A M, Gardella, E, Aledo-Serrano, A, Ananth, A L, Brea-Fernández, A J, Caumes, R, Chatron, N, Dainelli, A, De Wachter, M, Denommé-Pichon, A-S, Dye, T J, Fazzi, E, Felt, R, Fernández-Jaén, A, Fernández-Prieto, M, Gantz, E, Gasperowicz, P, Gil-Nagel, A, Gómez-Andrés, D, Greiner, H M, Guerrini, R, Haanpää, M K, Helin, M, Hoyer, J, Hurst, A C E, Kallish, S, Karkare, S N, Khan, A, Kleinendorst, L, Koch, J, Kothare, S V, Koudijs, S V, Lagae, L, Lakeman, P, Leppig, K A, Lesca, G, Lopergolo, D, Lusk, L, Mackenzie, A, Mei, D, Møller, R S, Pereira, E M, Platzer, K, Quelin, C, Revah-Politi, A, Rheims, S, Rodríguez-Palmero, A, Rossi, A, Santorelli, F, Seinfeld, S, Sell, E, Stephenson, D,Szczaluba , K, Trinka, E, Umair, M, Van Esch, H, van Haelst, M M, Veenma, D C M, Weber, S, Weckhuysen, S, Zacher, P, Tümer, Z & Rubboli, G 2023, 'Developmental epileptic encephalopathy in DLG4-related synaptopathy', Epilepsia. https://doi.org/10.1111/epi.17876
Kassabian, B, Levy, A M, Gardella, E, Aledo-Serrano, A, Ananth, A L, Brea-Fernández, A J, Caumes, R, Chatron, N, Dainelli, A, De Wachter, M, Denommé-Pichon, A-S, Dye, T J, Fazzi, E, Felt, R, Fernández-Jaén, A, Fernández-Prieto, M, Gantz, E, Gasperowicz, P, Gil-Nagel, A, Gómez-Andrés, D, Greiner, H M, Guerrini, R, Haanpää, M K, Helin, M, Hoyer, J, Hurst, A C E, Kallish, S, Karkare, S N, Khan, A, Kleinendorst, L, Koch, J, Kothare, S V, Koudijs, S M, Lagae, L, Lakeman, P, Leppig, K A, Lesca, G, Lopergolo, D, Lusk, L, Mackenzie, A, Mei, D, Møller, R S, Pereira, E M, Platzer, K, Quelin, C, Revah-Politi, A, Rheims, S, Rodríguez-Palmero, A, Rossi, A, Santorelli, F, Seinfeld, S, Sell, E, Stephenson, D,Szczaluba , K, Trinka, E, Umair, M, Van Esch, H, van Haelst, M M, Veenma, D C M, Weber, S, Weckhuysen, S, Zacher, P, Tümer, Z & Rubboli, G 2024, ' Developmental epileptic encephalopathy in DLG4-related synaptopathy ', Epilepsia, vol. 65, no. 4, pp. 1029-1045 . https://doi.org/10.1111/epi.17876
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Kassabian, B, Levy, A M, Gardella, E, Aledo-Serrano, A, Ananth, A L, Brea-Fernández, A J, Caumes, R, Chatron, N, Dainelli, A, De Wachter, M, Denommé-Pichon, A-S, Dye, T J, Fazzi, E, Felt, R, Fernández-Jaén, A, Fernández-Prieto, M, Gantz, E, Gasperowicz, P, Gil-Nagel, A, Gómez-Andrés, D, Greiner, H M, Guerrini, R, Haanpää, M K, Helin, M, Hoyer, J, Hurst, A C E, Kallish, S, Karkare, S N, Khan, A, Kleinendorst, L, Koch, J, Kothare, S V, Koudijs, S V, Lagae, L, Lakeman, P, Leppig, K A, Lesca, G, Lopergolo, D, Lusk, L, Mackenzie, A, Mei, D, Møller, R S, Pereira, E M, Platzer, K, Quelin, C, Revah-Politi, A, Rheims, S, Rodríguez-Palmero, A, Rossi, A, Santorelli, F, Seinfeld, S, Sell, E, Stephenson, D,
Kassabian, B, Levy, A M, Gardella, E, Aledo-Serrano, A, Ananth, A L, Brea-Fernández, A J, Caumes, R, Chatron, N, Dainelli, A, De Wachter, M, Denommé-Pichon, A-S, Dye, T J, Fazzi, E, Felt, R, Fernández-Jaén, A, Fernández-Prieto, M, Gantz, E, Gasperowicz, P, Gil-Nagel, A, Gómez-Andrés, D, Greiner, H M, Guerrini, R, Haanpää, M K, Helin, M, Hoyer, J, Hurst, A C E, Kallish, S, Karkare, S N, Khan, A, Kleinendorst, L, Koch, J, Kothare, S V, Koudijs, S M, Lagae, L, Lakeman, P, Leppig, K A, Lesca, G, Lopergolo, D, Lusk, L, Mackenzie, A, Mei, D, Møller, R S, Pereira, E M, Platzer, K, Quelin, C, Revah-Politi, A, Rheims, S, Rodríguez-Palmero, A, Rossi, A, Santorelli, F, Seinfeld, S, Sell, E, Stephenson, D,
Academic Journal
Kassabian, Benedetta; Levy, Amanda M.; Gardella, Elena; Aledo-Serrano, Angel; Ananth, Amitha L.; Brea-Fernandez, Alejandro J.; Caumes, Roseline; Chatron, Nicolas; Dainelli, Alice; De Wachter, Matthias; Denomme-Pichon, Anne-Sophie; Dye, Thomas J.; Fazzi, Elisa; Felt, Roxanne; Fernandez-Jaen, Alberto; Fernandez-Prieto, Montse; Gantz, Emily; Gasperowicz, Piotr; Gil-Nagel, Antonio; Gomez-Andres, David; Greiner, Hansel M.; Guerrini, Renzo; Haanpaeae, Maria K.; Helin, Minttu; Hoyer, Juliane; Hurst, Anna C. E.; Kallish, Staci; Karkare, Shefali N.; Khan, Amjad; Kleinendorst, Lotte; Koch, Johannes; Kothare, Sanjeev V.; Koudijs, Suzanna M.; Lagae, Lieven; Lakeman, Phillis; Leppig, Kathleen A.; Lesca, Gaetan; Lopergolo, Diego; Lusk, Laina; Mackenzie, Alex; Mei, Davide; Moller, Rikke S.; Pereira, Elaine M.; Platzer, Konrad; Quelin, Chloe; Revah-Politi, Anya; Rheims, Sylvain; Rodriguez-Palmero, Agusti; Rossi, Andrea; Santorelli, Filippo; Seinfeld, Syndi; Sell, Erick; Stephenson, Donna; Szczaluba, Krzysztof; Trinka, Eugen; Umair, Muhammad; Van Esch, Hilde; van Haelst, Mieke M.; Veenma, Danielle C. M.; Weber, Sacha; Weckhuysen, Sarah; Zacher, Pia; Tuemer, Zeynep; Rubboli, Guido
Epilepsia. 65(4):1029-1045
Academic Journal
Szoszkiewicz, Anna; Sowinska-Seidler, Anna; Wnuk-Klosinska, Aleksandra; Bukowska-Olech, Ewelina; Biel, Karolina; Matuszewska, Karolina; Biel, Marcin; Badura-Stronka, Magdalena; Glazar, Renata; Jakubiuk-Tomaszuk, Anna; Krawczynski, Maciej; Szczaluba, Krzysztof; Sledzinska, Karolina; Wisniewska, Marzena; Jamsheer, Aleksander
Academic Journal
Rydzanicz, Malgorzata; Olszewski, Pawel; Kedra, Darek; Davies, Hanna; Filipowicz, Natalia; Bruhn-Olszewska, Bozena; Cavalli, Marco; Szczaluba, Krzysztof; Mlynek, Marlena; Machnicki, Marcin M.; Stawinski, Piotr; Kostrzewa, Grazyna; Krajewski, Pawel; Sladowski, Dariusz; Chrzanowska, Krystyna; Dumanski, Jan P.; Ploski, Rafal
Science for Life Laboratory – a national resource center for high–throughput molecular bioscience Molecular Genetics & Genomic Medicine. 9(1)
Academic Journal
McCrary, J. Matt; Van Valckenborgh, Els; Poirel, Hélène A.; de Putter, Robin; van Rooij, Jeroen; Horgan, Denis; Dierks, Marie Luise; Antonova, Olga; Brunet, Joan; Chirita-Emandi, Adela; Colas, Chrystelle; Dalmas, Miriam; Ehrencrona, Hans; Grima, Claire; Janavičius, Ramūnas; Klink, Barbara; Koczok, Katalin; Krajc, Mateja; Lace, Baiba; Leitsalu, Liis; Mistrik, Martin; Paneque, Milena; Primorac, Dragan; Roetzer, Katharina M.; Ronez, Joelle; Slámová, Lucie; Spanou, Elena; Stamatopoulos, Kostas; Stoklosa, Tomasz; Strang-Karlsson, Sonja; Szakszon, Katalin; Szczałuba, Krzysztof; Turner, Jacqueline; van Dooren, Marieke F.; van Zelst-Stams, Wendy A.G.; Vassallo, Loredana Maria; Wadt, Karin A.W.; Žigman, Tamara; Ripperger, Tim; Genuardi, Maurizio; Van den Bulcke, Marc; Bergmann, Anke Katharina
European Journal of Public Health. 34(4):666-675
Academic Journal
Rosa, Agnieszka; Nowakowska, Dominika; Rosa, Piotr; Simiera, Justyna; Gliniany, Andrzej; Zawadka, Michal; Szczaluba, Krzysztof; Przyslo, Lukasz; Szymanska, Krystyna; Loba, Piotr; Gawecki, Maciej; Pojda-Wilczek, Dorota
Academic Journal
Wasilewska, Krystyna ; Gambin, Tomasz ; Rydzanicz, Małgorzata ; Szczałuba, Krzysztof ; Płoski, Rafał
In Mutation Research-Reviews in Mutation Research July-December 2022 790
Academic Journal
Isidor, Bertrand ; Ebstein, Frédéric ; Hurst, Anna ; Vincent, Marie ; Bader, Ingrid ; Rudy, Natasha L. ; Cogne, Benjamin ; Mayr, Johannes ; Brehm, Anja ; Bupp, Caleb ; Warren, Kathryn ; Bacino, Carlos A. ; Gerard, Amanda ; Ranells, Judith D. ; Metcalfe, Kay A. ; van Bever, Yolande ; Jiang, Yong-Hui ; Mendelssohn, Bryce A. ; Cope, Heidi ; Rosenfeld, Jill A. ; Blackburn, Patrick R. ; Goodenberger, McKinsey L. ; Kearney, Hutton M. ; Kennedy, Joanna ; Scurr, Ingrid ; Szczaluba, Krzysztof ; Ploski, Rafal ; de Saint Martin, Anne ; Alembik, Yves ; Piton, Amélie ; Bruel, Ange-Line ; Thauvin-Robinet, Christel ; Strong, Alanna ; Diderich, Karin E.M. ; Bourgeois, Dominique ; Dahan, Karin ; Vignard, Virginie ; Bonneau, Dominique ; Colin, Estelle ; Barth, Magalie ; Camby, Caroline ; Baujat, Geneviève ; Briceño, Ignacio ; Gómez, Alberto ; Deb, Wallid ; Conrad, Solène ; Besnard, Thomas ; Bézieau, Stéphane ; Krüger, Elke ; Küry, Sébastien ; Stankiewicz, PaweƗ
In Genetics in Medicine January 2022 24(1):179-191
Academic Journal
Jakubiak, Aleksandra; Szczaluba, Krzysztof; Badura-Stronka, Magdalena; Kutkowska-Kazmierczak, Anna; Jakubiuk-Tomaszuk, Anna; Chilarska, Tatiana; Pilch, Jacek
Journal of Applied Genetics. September, 2021, Vol. 62 Issue 3, p477, 9 p.
Academic Journal
Klaniewska Magdalena; Bolanowska‐Tyszko Anna; Latos‐Bielenska Anna; Jezela‐Stanek Aleksandra; Szczaluba Krzysztof; Krajewska‐Walasek Malgorzata; Ciara Elzbieta; Pelc Magdalena; Jurkiewicz Dorota; Stawinski Piotr; Zubkiewicz‐Kucharska Agnieszka; Rydzanicz Małgorzata; Ploski Rafal; Smigiel Robert
Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)
Academic Journal
Clinical Case Reports, Vol 14, Iss 2, Pp n/a-n/a (2026)
Academic Journal
Dushar, Marya ; Nowaczyk, Jędrzej ; Pyrżak, Beata ; Akopyan, Hayane ; Śmigiel, Robert ; Walczak, Anna ; Rydzanicz, Małgorzata ; Płoski, Rafał ; Szczałuba, Krzysztof
In European Journal of Medical Genetics December 2021 64(12)
Academic Journal
Snir Boniel; Maria Krajewska; Beata Pyrżak; Monika Paluchowska; Anna Majcher; Magdalena Zarlenga; Katarzyna Krenke; Robert Śmigiel; Anetta Jeziorek; Krystyna Szymańska; Krzysztof Szczałuba
Frontiers in Genetics, Vol 15 (2024)
Academic Journal
Swieca, Aleksandra; Franaszczyk, Maria; Maryniak, Agnieszka; Lipinski, Patryk; Ploski, Rafal; Szczaluba, Krzysztof
Academic Journal
Gos, Monika; Malinowska, Olga; Twardowska, Beata; Dawidziuk, Mateusz; Landowska, Aleksandra; Abramowicz, Anna; Poryszewska, Milena; Kutkowska-Kazmierczak, Anna; Jennifer, Castaneda; Klapecki, Jakub; Braun-Walicka, Natalia; Pawel, Wlasienko; Geremek, Maciej; Barczyk, Artur; Sledzinska, Karolina; Cichon-Kotek, Monika; Klosowska, Anna; Lipska-Ziętkiewicz, Beata; Wierzba, Jolanta; Bieszczad, Damian; Gintowt-Chakour, Aleksandra; Piotrowicz, Malgorzata; Chilarska, Tatiana; Wieczorek-Cichecka, Nina; Konska, Katarzyna; Janeczko, Magdalena; Pilch, Jacek; Wojciechowska, Katarzyna; Jaszczuk, Ilona; Posmyk, Renata; Jakubiuk-Tomaszuk, Anna; Badura-Stronka, Magdalena; Lassota, Maria; Szczaluba, Krzysztof; Obersztyn, Ewa; Bal, Jerzy
European Journal of Human Genetics. 32(suppl.2):1566-1567
Academic Journal
Szczaluba, Krzysztof; Makula, Ewa; Piórecka-Makula, Anna; Sicinska, Justyna; Rydzanicz, Malgorzata; Gasperowicz, Piotr; Ploski, Rafal
Journal of Applied Genetics. December, 2020, Vol. 61 Issue 4, p559, 7 p.
Academic Journal
Szczaluba, Krzysztof; Mierzewska, Hanna; Smigiel, Robert; Kosinska, Joanna; Koppolu, Agnieszka; Biernacka, Anna; Stawinski, Piotr
Journal of Applied Genetics. May, 2020, Vol. 61 Issue 2, p213, 6 p.
Academic Journal
Ivanovski, Ivan; Djuric, Olivera; Caraffi, Stefano Giuseppe; Santodirocco, Daniela; POLLAZZON, MARZIA; Rosato, Simonetta; CORDELLI, DUCCIO MARIA; Abdalla, Ebtesam; Accorsi, Patrizia; Adam, Margaret P; Ajmone, Paola Francesca; Badura-Stronka, Magdalena; Baldo, Chiara; Baldi, Maddalena; Bayat, Allan; Bigoni, Stefania; Bonvicini, Federico; Breckpot, Jeroen; Callewaert, Bert; Cocchi, Guido; Cuturilo, Goran; De Brasi, Daniele; Devriendt, Koenraad; Dinulos, Mary Beth; Hjortshøj, Tina Duelund; Epifanio, Roberta; Faravelli, Francesca; Fiumara, Agata; Formisano, Debora; Giordano, Lucio; Grasso, Marina; Grønborg, Sabine; Iodice, Alessandro; Iughetti, Lorenzo; Kuburovic, Vladimir; Kutkowska-Kazmierczak, Anna; Lacombe, Didier; Lo Rizzo, Caterina; Luchetti, Anna; Malbora, Baris; Mammi, Isabella; Mari, Francesca; Montorsi, Giulia; Moutton, Sebastien; Møller, Rikke S; Muschke, Petra; Nielsen, Jens Erik Klint; Obersztyn, Ewa; Pantaleoni, Chiara; Pellicciari, Alessandro; Pisanti, Maria Antonietta; Prpic, Igor; Poch-Olive, Maria Luisa; Raviglione, Federico; Renieri, Alessandra; Ricci, Emilia; Rivieri, Francesca; Santen, Gijs W; Savasta, Salvatore; Scarano, Gioacchino; Schanze, Ina; Selicorni, Angelo; Silengo, Margherita; Smigiel, Robert; Spaccini, Luigina; Sorge, Giovanni; Szczaluba, Krzysztof; Tarani, Luigi; Tone, Luis Gonzaga; Toutain, Annick; Trimouille, Aurelien; Valera, Elvis Terci; Vergano, Samantha Schrier; Zanotta, Nicoletta; Zenker, Martin; Conidi, Andrea; Zollino, Marcella; Rauch, Anita; Zweier, Christiane; Garavelli, Livia
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C, Pellicciari, A, Pisanti, M A, Prpic, I, Poch-Olive, M L, Raviglione, F, Renieri, A, Ricci, E, Rivieri, F, Santen, G W, Savasta, S, Scarano, G, Schanze, I, Selicorni, A, Silengo, M, Smigiel, R, Spaccini, L, Sorge, G, Szczaluba , K, Tarani, L, Tone, L G, Toutain, A, Trimouille, A, Valera, E T, Vergano, S S, Zanotta, N, Zenker, M, Conidi, A, Zollino, M, Rauch, A, Zweier, C & Garavelli, L 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics In Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C & Pellicciari, A 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics in Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221
Genetics in Medicine
Volume 20
Issue 9
GENETICS IN MEDICINE
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C & Pellicciari, A 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics in Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221
Genetics in Medicine
Volume 20
Issue 9
GENETICS IN MEDICINE
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