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Number of items: 3.

Journal Article

Elsayed, Solaf M., Heller, Raoul, Thoenes, Michaela, Zaki, Maha S., Swan, Daniel ORCID: 0000-0001-8978-8129, Elsobky, Ezzat, Zuehlke, Christine, Ebermann, Inga, Nuernberg, Gudrun, Nuernberg, Peter and Bolz, Hanno J. (2014). Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations. Eur. J. Hum. Genet., 22 (2). S. 286 - 289. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

Pujol, Claire, Legrand, Anne ORCID: 0000-0001-5703-3493, Parodi, Livia ORCID: 0000-0003-0605-2381, Thomas, Priscilla, Mochel, Fanny, Saracino, Dario ORCID: 0000-0002-4299-9743, Coarelli, Giulia, Croon, Marijana ORCID: 0000-0001-5797-5413, Popovic, Milica ORCID: 0000-0002-8762-6967, Valet, Manon, Villain, Nicolas ORCID: 0000-0002-7429-4289, Elshafie, Shahira ORCID: 0000-0001-5801-0197, Issa, Mahmoud ORCID: 0000-0002-3899-2821, Zuily, Stephane, Renaud, Mathilde, Marelli-Tosi, Cecilia, Legendre, Marine, Trimouille, Aurelien, Kemlin, Isabelle, Mathieu, Sophie, Gleeson, Joseph G., Lamari, Foudil, Galatolo, Daniele ORCID: 0000-0001-9402-2910, Alkouri, Rana, Tse, Chantal, Rodriguez, Diana, Ewenczyk, Claire, Fellmann, Florence, Kuntzer, Thierry, Blond, Emilie, El Hachimi, Khalid H., Darios, Frederic, Seyer, Alexandre, Gazi, Anastasia D., Giavalisco, Patrick, Perin, Silvina, Boucher, Jean-Luc, Le Corre, Laurent, Santorelli, Filippo M., Goizet, Cyril, Zaki, Maha S., Picaud, Serge, Mourier, Arnaud, Steculorum, Sophie Marie, Mignot, Cyril, Durr, Alexandra, Trifunovic, Aleksandra and Stevanin, Giovanni ORCID: 0000-0001-9368-8657 (2021). Implication of folate deficiency in CYP2U1 loss of function. J. Exp. Med., 218 (11). NEW YORK: ROCKEFELLER UNIV PRESS. ISSN 1540-9538

Zaki, Maha S., Heller, Raoul, Thoenes, Michaela, Nuernberg, Gudrun, Stern-Schneider, Gabi, Nuernberg, Peter, Karnati, Srikanth ORCID: 0000-0001-9083-2916, Swan, Daniel ORCID: 0000-0001-8978-8129, Fateen, Ekram ORCID: 0000-0002-0777-0417, Nagel-Wolfrum, Kerstin, Mostafa, Mostafa I., Thiele, Holger, Wolfrum, Uwe, Baumgart-Vogt, Eveline ORCID: 0000-0002-8265-3763 and Bolz, Hanno J. (2016). PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly. Hum. Mutat., 37 (2). S. 170 - 175. HOBOKEN: WILEY. ISSN 1098-1004

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