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The New England journal of medicine, 2018-02, Vol.378 (7), p.625-635
- Mercuri, Eugenio
- Darras, Basil T
- Chiriboga, Claudia A
- Day, John W
- Campbell, Craig
- Connolly, Anne M
- Iannaccone, Susan T
- Kirschner, Janbernd
- Kuntz, Nancy L
- Saito, Kayoko
- Shieh, Perry B
- Tulinius, Már
- Mazzone, Elena S
- Montes, Jacqueline
- Bishop, Kathie M
- Yang, Qingqing
- Foster, Richard
- Gheuens, Sarah
- Bennett, C. Frank
- Farwell, Wildon
- Schneider, Eugene
- De Vivo, Darryl C
- Finkel, Richard S
2018
Link zum Volltext
The New England journal of medicine, 2017-11, Vol.377 (18), p.1723-1732
- Finkel, Richard S
- Mercuri, Eugenio
- Darras, Basil T
- Connolly, Anne M
- Kuntz, Nancy L
- Kirschner, Janbernd
- Chiriboga, Claudia A
- Saito, Kayoko
- Servais, Laurent
- Tizzano, Eduardo
- Topaloglu, Haluk
- Tulinius, Már
- Montes, Jacqueline
- Glanzman, Allan M
- Bishop, Kathie
- Zhong, Z. John
- Gheuens, Sarah
- Bennett, C. Frank
- Schneider, Eugene
- Farwell, Wildon
- De Vivo, Darryl C
2017
Link zum Volltext
The New England journal of medicine, 2021-03, Vol.384 (10), p.915-923
2021
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Hepatology (Baltimore, Md.), 2023-02, Vol.77 (2), p.512-529
- Vandriel, Shannon M
- Li, Li-Ting
- She, Huiyu
- Wang, Jian-She
- Gilbert, Melissa A
- Jankowska, Irena
- Czubkowski, Piotr
- Gliwicz-Miedzińska, Dorota
- Gonzales, Emmanuel M
- Jacquemin, Emmanuel
- Bouligand, Jérôme
- Spinner, Nancy B
- Loomes, Kathleen M
- Piccoli, David A
- D'Antiga, Lorenzo
- Nicastro, Emanuele
- Sokal, Étienne
- Demaret, Tanguy
- Ebel, Noelle H
- Feinstein, Jeffrey A
- Fawaz, Rima
- Nastasio, Silvia
- Lacaille, Florence
- Debray, Dominique
- Arnell, Henrik
- Fischler, Björn
- Siew, Susan
- Stormon, Michael
- Karpen, Saul J
- Romero, Rene
- Kim, Kyung Mo
- Baek, Woo Yim
- Hardikar, Winita
- Shankar, Sahana
- Roberts, Amin J
- Evans, Helen M
- Jensen, M Kyle
- Kavan, Marianne
- Sundaram, Shikha S
- Chaidez, Alexander
- Karthikeyan, Palaniswamy
- Sanchez, Maria Camila
- Cavalieri, Maria Lorena
- Verkade, Henkjan J
- Lee, Way Seah
- Squires, James E
- Hajinicolaou, Christina
- Lertudomphonwanit, Chatmanee
- Fischer, Ryan T
- Larson-Nath, Catherine
- Mozer-Glassberg, Yael
- Arikan, Cigdem
- Lin, Henry C
- Bernabeu, Jesus Quintero
- Alam, Seema
- Kelly, Deirdre A
- Carvalho, Elisa
- Ferreira, Cristina Targa
- Indolfi, Giuseppe
- Quiros-Tejeira, Ruben E
- Bulut, Pinar
- Calvo, Pier Luigi
- Önal, Zerrin
- Valentino, Pamela L
- Desai, Dev M
- Eshun, John
- Rogalidou, Maria
- Dezsőfi, Antal
- Wiecek, Sabina
- Nebbia, Gabriella
- Pinto, Raquel Borges
- Wolters, Victorien M
- Tamara, María Legarda
- Zizzo, Andréanne N
- Garcia, Jennifer
- Schwarz, Kathleen
- Beretta, Marisa
- Sandahl, Thomas Damgaard
- Jimenez-Rivera, Carolina
- Kerkar, Nanda
- Brecelj, Jernej
- Mujawar, Quais
- Rock, Nathalie
- Busoms, Cristina Molera
- Karnsakul, Wikrom
- Lurz, Eberhard
- Santos-Silva, Ermelinda
- Blondet, Niviann
- Bujanda, Luis
- Shah, Uzma
- Thompson, Richard J
- Hansen, Bettina E
- Kamath, Binita M
2023
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The New England journal of medicine, 2021-07, Vol.385 (5), p.427-435
2021
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Developmental medicine and child neurology, 2019-01, Vol.61 (1), p.19-24
2019
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Pediatrics (Evanston), 2017-03, Vol.139 (3)
2017
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The Pan African medical journal, 2020-07, Vol.36 (162)
2020
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Canadian journal of diabetes, 2024-01
2024
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Chest, 2022-06, Vol.161 (6), p.A379-A379
2022
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American journal of human genetics, 2015-12, Vol.97 (6), p.886-893
- Boycott, Kym M.
- Beaulieu, Chandree L.
- Kernohan, Kristin D.
- Gebril, Ola H.
- Mhanni, Aziz
- Chudley, Albert E.
- Redl, David
- Qin, Wen
- Hampson, Sarah
- Küry, Sébastien
- Tetreault, Martine
- Puffenberger, Erik G.
- Scott, James N.
- Bezieau, Stéphane
- Reis, André
- Uebe, Steffen
- Schumacher, Johannes
- Hegele, Robert A.
- McLeod, D. Ross
- Gálvez-Peralta, Marina
- Majewski, Jacek
- Ramaekers, Vincent T.
- Nebert, Daniel W.
- Innes, A. Micheil
- Parboosingh, Jillian S.
- Abou Jamra, Rami
2015
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JAMA : the journal of the American Medical Association, 2019-01, Vol.321 (4), p.354
2019
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PloS one, 2018-07, Vol.13 (7), p.e0201004-e0201004
- Chabanon, Aurélie
- Seferian, Andreea Mihaela
- Daron, Aurore
- Péréon, Yann
- Cances, Claude
- Vuillerot, Carole
- De Waele, Liesbeth
- Cuisset, Jean-Marie
- Laugel, Vincent
- Schara, Ulrike
- Gidaro, Teresa
- Gilabert, Stéphanie
- Hogrel, Jean-Yves
- Baudin, Pierre-Yves
- Carlier, Pierre
- Fournier, Emmanuel
- Lowes, Linda Pax
- Hellbach, Nicole
- Seabrook, Timothy
- Toledano, Elie
- Annoussamy, Mélanie
- Servais, Laurent
- Mingozzi, Federico
2018
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Pediatrics (Evanston), 2023-10, Vol.152 (4)
- Gaschignard, Jean
- Koehl, Bérengère
- Rees, David C.
- Rincón-López, Elena
- Vanderfaeillie, Anna
- Pascault, Alice
- Allali, Slimane
- Cela, Elena
- Odièvre, Marie-Hélène
- Hau, Isabelle
- Oliveira, Marisa
- Guillaumat, Cécile
- Brousse, Valentine
- de Montalembert, Mariane
- Navarro Gómez, Maria Luisa
- Beldjoudi, Naima
- Bardon-Cancho, Eduardo Jesus
- Epalza, Cristina
- Benkerrou, Malika
- Koehl, Berengère
- de Montalembert, Marianne
- Blais, Sophie
- Runel-Belliard, Camille
- Pellegrino, Béatrice
- Malric, Aurore
- Guitton, Corinne
- Gouraud, François
- Petras, Marie
- Bensaid, Philippe
- Basmaci, Romain
- Eyssette-Guereau, Stéphanie
- Pham, Luu-Ly
- Bardon-Cancho, Eduardo J.
- Gómez, Maria Luisa Navarro
- Rincon-Lopez, Elena
- Ruiz-Llobet, Anna
- Adan, Rosa
- Puyo, Pablo Velasco
- Recasens, Valle
- Perez-Alonso, Vanesa
- Torrent, Montserrat
- Gomez, Amanda Bermejo
- Vázquez, Angeles
- Rodríguez, Raquel Portugal
- Alfaridi, Huda
- Almaghrabi, Rana
- Hoyoux, Marie
- Ferreira, Teresa
- Rees, David
2023
Link zum Volltext
Pediatrics (Evanston), 2017-02, Vol.139 (2)
- Tauber, Maïthé
- Boulanouar, Kader
- Diene, Gwenaelle
- Çabal-Berthoumieu, Sophie
- Ehlinger, Virginie
- Fichaux-Bourin, Pascale
- Molinas, Catherine
- Faye, Sandy
- Valette, Marion
- Pourrinet, Jeanne
- Cessans, Catie
- Viaux-Sauvelon, Sylvie
- Bascoul, Céline
- Guedeney, Antoine
- Delhanty, Patric
- Geenen, Vincent
- Martens, Henri
- Muscatelli, Françoise
- Cohen, David
- Consoli, Angèle
- Payoux, Pierre
- Arnaud, Catherine
- Salles, Jean-Pierre
2017
Link zum Volltext
Developmental medicine and child neurology, 2023-01, Vol.65 (1), p.67-77
2023
Link zum Volltext
Developmental medicine and child neurology, 2020-03, Vol.62 (3), p.310-314
- Aragon‐Gawinska, Karolina
- Daron, Aurore
- Ulinici, Ana
- Vanden Brande, Laura
- Seferian, Andreea
- Gidaro, Teresa
- Scoto, Mariacristina
- Deconinck, Nicolas
- Servais, Laurent
- Benezit, Audrey
- Mathieu, Marie‐Laure
- Cances, Claude
- Durigneux, Julien
- Ropars, Juliette
- Chouchane, Mondher
- Forey, Peggy
- Lazaro, Leila
- Hughes, Imelda
- Illingworth, Marjorie
- Marini‐Bettolo, Chiara
- Cuppen, Inge
- Modrzejewska, Sandra
- Balintova, Zdenka
- Haberlova, Jana
- Drimtzia, Kate
- Blaschek, Astrid
- Ambegankoar, Gautam
- Annoussamy, Melanie
2020
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Nature communications, 2017-11, Vol.8 (1), p.1859-8, Article 1859
2017
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Clinical journal of the American Society of Nephrology, 2023-02, Vol.18 (5), p.581-591
2023
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Environmental health perspectives, 2021-08, Vol.129 (8), p.87003
2021
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Journal of neurology, neurosurgery and psychiatry, 2022-12, Vol.93 (12), p.1276
2022
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Progrès en urologie (Paris), 2023-09, Vol.33 (10), p.474-480
2023
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Pediatric research, 2022-07, Vol.92 (1), p.61-70
2022
Link zum Volltext
Brain (London, England : 1878), 2023-07, Vol.146 (7), p.3003-3013
- Tangeraas, Trine
- Constante, Juliana R
- Backe, Paul Hoff
- Oyarzábal, Alfonso
- Neugebauer, Julia
- Weinhold, Natalie
- Boemer, Francois
- Debray, François G
- Ozturk-Hism, Burcu
- Evren, Gumus
- Tuba, Eminoglu F
- Ummuhan, Oncul
- Footitt, Emma
- Davison, James
- Martinez, Caroline
- Bueno, Clarissa
- Machado, Irene
- Rodríguez-Pombo, Pilar
- Al-Sannaa, Nouriya
- De Los Santos, Mariela
- López, Jordi Muchart
- Ozturkmen-Akay, Hatice
- Karaca, Meryem
- Tekin, Mustafa
- Pajares, Sonia
- Ormazabal, Aida
- Stoway, Stephanie D
- Artuch, Rafael
- Dixon, Marjorie
- Mørkrid, Lars
- García-Cazorla, Angeles
2023
Link zum Volltext
Pediatric research, 2019-04, Vol.85 (5), p.650-654
2019
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