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Journal article

Schalk, Audrey; Cousin, Margot A.; Dsouza, Nikita R.; Challman, Thomas D.; Wain, Karen E.; Powis, Zoe; Minks, Kelly; Trimouille, Aurélien ORCID logoORCID: https://orcid.org/0000-0002-3457-5684; Lasseaux, Eulalie; Lacombe, Didier; Angelini, Chloé; Michaud, Vincent; Van-Gils, Julien; Spataro, Nino; Ruiz, Anna ORCID logoORCID: https://orcid.org/0000-0001-7314-5962; Gabau, Elizabeth; Stolerman, Elliot ORCID logoORCID: https://orcid.org/0000-0001-9536-4621; Washington, Camerun; Louie, Ray; Lanpher, Brendan C.; Kemppainen, Jennifer L.; Innes, Micheil; Kooy, Frank ORCID logoORCID: https://orcid.org/0000-0003-2024-0485; Meuwissen, Marije; Goldenberg, Alice; Lecoquierre, Francois ORCID logoORCID: https://orcid.org/0000-0002-9110-1856; Vera, Gabriella; Diderich, Karin E. M.; Sheidley, Beth; El Achkar, Christelle Moufawad; Park, Meredith; Hamdan, Fadi F.; Michaud, Jacques L.; Lewis, Ann J; Zweier, Christiane; Reis, André ORCID logoORCID: https://orcid.org/0000-0002-6301-6363; Wagner, Matias ORCID logoORCID: https://orcid.org/0000-0002-4454-8823; Weigand, Heike; Journel, Hubert; Keren, Boris; Passemard, Sandrine ORCID logoORCID: https://orcid.org/0000-0002-0242-4566; Mignot, Cyril; Gassen, Koen van; Brilstra, Eva H.; Itzikowitz, Gina; O'Heir, Emily; Allen, Jake; Donald, Kirsten A.; Korf, Bruce Richard; Skelton, Tammi; Thompson, Michelle; Robin, Nathaniel H.; Rudy, Natasha L.; Dobyns, William B.; Foss, Kimberly; Zarate, Yuri Alexander; Bosanko, Katherine A.; Alembik, Yves; Durand, Benjamin; Tran Mau-them, Frederic ORCID logoORCID: https://orcid.org/0000-0002-3795-9456; Ranza, Emmanuelle; Blanc, Xavier; Antonarakis, Stylianos E.; McWalter, Kirsty; Torti, Erin; Millan, Francisca; Dameron, Amy; Tokita, Mari; Zimmermann, Michael T.; Klee, Eric W. ORCID logoORCID: https://orcid.org/0000-0003-2946-5795; Piton, Amelie ORCID logoORCID: https://orcid.org/0000-0003-0408-7468 and Gerard, Benedicte (2021): De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability. In: Journal of Medical Genetics, Vol. 59, No. 10: pp. 965-975

Hellwig, Malte; Lauffer, Marlen C.; Bockmayr, Michael; Spohn, Michael; Merk, Daniel J.; Harrison, Luke; Ahlfeld, Julia; Kitowski, Annabel; Neumann, Julia E.; Ohli, Jasmin; Holdhof, Doerthe; Niesen, Judith; Schoof, Melanie; Kool, Marcel; Kraus, Cornelia; Zweier, Christiane; Holmberg, Dan and Schueller, Ulrich (2019): TCF4 (E2-2) harbors tumor suppressive functions in SHH medulloblastoma. In: Acta Neuropathologica, Vol. 137, No. 4: pp. 657-673

Mignot, Cyril; Stülpnagel, Celina von; Nava, Caroline; Ville, Dorothée; Sanlaville, Damien; Lesca, Gaetan; Rastetter, Agnès; Gachet, Benoit; Marie, Yannick; Korenke, G. Christoph; Borggräfe, Ingo; Hoffmann-Zacharska, Dorota; Szczepanik, Elzbieta; Rudzka-Dybala, Mariola; Yiş, Uluç; Çağlayan, Hande; Isapof, Arnaud; Marey, Isabelle; Panagiotakaki, Eleni; Korff, Christian; Rossier, Eva; Riess, Angelika; Beck-Woedl, Stefanie; Rauch, Anita; Zweier, Christiane; Hoyer, Juliane; Reis, André; Mironov, Mikhail; Bobylova, Maria; Mukhin, Konstantin; Hernandez-Hernandez, Laura; Maher, Bridget; Sisodiya, Sanjay; Kuhn, Marius; Glaeser, Dieter; Wechuysen, Sarah; Myers, Candace T.; Mefford, Heather C.; Hörtnagel, Konstanze; Biskup, Saskia; Lemke, Johannes R.; Héron, Delphine; Kluger, Gerhard and Depienne, Christel (2016): Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. In: Journal of Medical Genetics, Vol. 53, No. 8: pp. 511-522 [PDF, 1MB]

Zenker, Martin; Horn, Denise; Wieczorek, Dagmar; Allanson, Judith; Pauli, Silke; Burgt, Ineke van der; Doerr, Helmuth-Guenther; Gaspar, Harald; Hofbeck, Michael; Gillessen-Kaesbach, Gabriele; Kock, Andreas; Meinecke, Peter; Mundlos, Stefan; Nowka, Anja; Rauch, Anita; Reif, Silke; Schnakenburg, Christian von; Seidel, Heide; Wehner, Lars-Erik; Zweier, Christiane; Bauhuber, Susanne; Matejas, Verena; Kratz, Christian P.; Thomas, Christoph and Kutsche, Kerstin (2007): SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. In: Journal of Medical Genetics, Vol. 44: pp. 651-656 [PDF, 1MB]

This list was generated on Sun Jun 16 06:17:09 2024 CEST.