Sweet ending: When genetics prevent a dramatic CDG diagnostic mistake
Civit, Antoine, Gueguen, Paul, Blasco, Helene, Benz-de-Bretagne, Isabelle, Lebredonchel, Élodie, Dingeo, Giulia, Jeanne, Médéric, Rouxel, Sophie, Tardieu, Marine, Raynor, Alexandre, Labarthe, François, Bruneel, Arnaud, Goetz, Violette
Published in Clinica chimica acta (01.11.2023)
Published in Clinica chimica acta (01.11.2023)
Get full text
Journal Article
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia
Nakamura, Yuji, Shimada, Issei S, Maroofian, Reza, Falabella, Micol, Zaki, Maha S, Fujimoto, Masanori, Sato, Emi, Takase, Hiroshi, Aoki, Shiho, Miyauchi, Akihiko, Koshimizu, Eriko, Miyatake, Satoko, Arioka, Yuko, Honda, Mizuki, Higashi, Takayoshi, Miya, Fuyuki, Okubo, Yukimune, Ogawa, Isamu, Scardamaglia, Annarita, Miryounesi, Mohammad, Alijanpour, Sahar, Ahmadabadi, Farzad, Herkenrath, Peter, Dafsari, Hormos Salimi, Velmans, Clara, Al Balwi, Mohammed, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Jeanne, Médéric, Civit, Antoine, Abdel-Hamid, Mohamed S, Naderi, Hamed, Darvish, Hossein, Bakhtiari, Somayeh, Kruer, Michael C, Carroll, Christopher J, Ghayoor Karimiani, Ehsan, Khailany, Rozhgar A, Abdulqadir, Talib Adil, Ozaslan, Mehmet, Bauer, Peter, Zifarelli, Giovanni, Seifi, Tahere, Zamani, Mina, Al Alam, Chadi, Alvi, Javeria Raza, Sultan, Tipu, Efthymiou, Stephanie, Pope, Simon A S, Haginoya, Kazuhiro, Matsunaga, Tamihide, Osaka, Hitoshi, Matsumoto, Naomichi, Ozaki, Norio, Ohkawa, Yasuyuki, Oki, Shinya, Tsunoda, Tatsuhiko, Pitceathly, Robert D S, Taketomi, Yoshitaka, Houlden, Henry, Murakami, Makoto, Kato, Yoichi, Saitoh, Shinji
Published in Brain (London, England : 1878) (31.07.2024)
Published in Brain (London, England : 1878) (31.07.2024)
Get full text
Journal Article
Sweet ending: When genetics prevent a dramatic CDG diagnostic mistake
Civit, Antoine, Gueguen, Paul, Blasco, Helene, Benz-de-Bretagne, Isabelle, Lebredonchel, Élodie, Dingeo, Giulia, Jeanne, Médéric, Rouxel, Sophie, Tardieu, Marine, Raynor, Alexandre, Labarthe, François, Bruneel, Arnaud, Goetz, Violette
Published in Clinica chimica acta; international journal of clinical chemistry (01.11.2023)
Published in Clinica chimica acta; international journal of clinical chemistry (01.11.2023)
Get full text
Report