Vyzkoušejte nový nástroj s podporou AI
Summon Research Assistant
BETA
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 (31.07.2024)
Published in Brain (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 (01.11.2023)
Published in Clinica chimica acta (01.11.2023)
Get full text
Journal Article
Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder–Robinson Syndrome
Civit, Antoine, Ronce, Nathalie, Cogné, Benjamin, Besnard, Thomas, Laurenceau, David, Hubert, Catherine, Moizard, Marie‐Pierre, Gueguen, Paul, Toutain, Annick, Vuillaume, Marie‐Laure
Published in Clinical genetics (01.02.2025)
Published in Clinical genetics (01.02.2025)
Get full text
Journal Article