日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Mowat-Wilson syndrome: growth charts

莫瓦特-威尔逊综合征:生长曲线图

Ivanovski, Ivan; Djuric, Olivera; Broccoli, Serena; Caraffi, Stefano Giuseppe; Accorsi, Patrizia; Adam, Margaret P; Avela, Kristina; Badura-Stronka, Magdalena; Bayat, Allan; Clayton-Smith, Jill; Cocco, Isabella; Cordelli, Duccio Maria; Cuturilo, Goran; Di Pisa, Veronica; Dupont Garcia, Juliette; Gastaldi, Roberto; Giordano, Lucio; Guala, Andrea; Hoei-Hansen, Christina; Inaba, Mie; Iodice, Alessandro; Nielsen, Jens Erik Klint; Kuburovic, Vladimir; Lazalde-Medina, Brissia; Malbora, Baris; Mizuno, Seiji; Moldovan, Oana; Møller, Rikke S; Muschke, Petra; Otelli, Valeria; Pantaleoni, Chiara; Piscopo, Carmelo; Poch-Olive, Maria Luisa; Prpic, Igor; Marín Reina, Purificación; Raviglione, Federico; Ricci, Emilia; Scarano, Emanuela; Simonte, Graziella; Smigiel, Robert; Tanteles, George; Tarani, Luigi; Trimouille, Aurelien; Valera, Elvis Terci; Schrier Vergano, Samantha; Writzl, Karin; Callewaert, Bert; Savasta, Salvatore; Street, Maria Elisabeth; Iughetti, Lorenzo; Bernasconi, Sergio; Giorgi Rossi, Paolo; Garavelli, Livia

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

定义和扩展QARS相关发育性癫痫性脑病的表型

Johannesen, Katrine M; Mitter, Diana; Janowski, Robert; Roth, Christian; Toulouse, Joseph; Poulat, Anne-Lise; Ville, Dorothee M; Chatron, Nicolas; Brilstra, Eva; Geleijns, Karin; Born, Alfred Peter; McLean, Scott; Nugent, Kimberly; Baynam, Gareth; Poulton, Cathryn; Dreyer, Lauren; Gration, Dylan; Schulz, Solveig; Dieckmann, Andrea; Helbig, Katherine L; Merkenschlager, Andreas; Jamra, Rami; Finck, Anja; Gardella, Elena; Hjalgrim, Helle; Mirzaa, Ghayda; Brancati, Francesco; Bierhals, Tatjana; Denecke, Jonas; Hempel, Maja; Lemke, Johannes R; Rubboli, Guido; Muschke, Petra; Guerrini, Renzo; Vetro, Annalisa; Niessing, Dierk; Lesca, Gaetan; Møller, Rikke S

Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors

由母体减数分裂I或II期错误导致的多条小型超数标记染色体

Hochstenbach, Ron; Nowakowska, Beata; Volleth, Marianne; Ummels, Amber; Kutkowska-Kaźmierczak, Anna; Obersztyn, Ewa; Ziemkiewicz, Kamila; Gerloff, Claudia; Schanze, Denny; Zenker, Martin; Muschke, Petra; Schanze, Ina; Poot, Martin; Liehr, Thomas

Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia

对与裂手/足畸形1型和蒙迪尼发育不良相关的7q21.3缺失进行精细化分析

Wieland, I; Muschke, P; Jakubiczka, S; Volleth, M; Freigang, B; Wieacker, P F