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

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

BCL11A 智力发育障碍:临床谱系及基因型-表型相关性定义

Peron, Angela; D'Arco, Felice; Aldinger, Kimberly A; Smith-Hicks, Constance; Zweier, Christiane; Gradek, Gyri A; Bradbury, Kimberley; Accogli, Andrea; Andersen, Erica F; Au, Ping Yee Billie; Battini, Roberta; Beleford, Daniah; Bird, Lynne M; Bouman, Arjan; Bruel, Ange-Line; Busk, Øyvind Løvold; Campeau, Philippe M; Capra, Valeria; Carlston, Colleen; Carmichael, Jenny; Chassevent, Anna; Clayton-Smith, Jill; Bamshad, Michael J; Earl, Dawn L; Faivre, Laurence; Philippe, Christophe; Ferreira, Patrick; Graul-Neumann, Luitgard; Green, Mary J; Haffner, Darrah; Haldipur, Parthiv; Hanna, Suhair; Houge, Gunnar; Jones, Wendy D; Kraus, Cornelia; Kristiansen, Birgit Elisabeth; Lespinasse, James; Low, Karen J; Lynch, Sally Ann; Maia, Sofia; Mao, Rong; Kalinauskiene, Ruta; Melver, Catherine; McDonald, Kimberly; Montgomery, Tara; Morleo, Manuela; Motter, Constance; Openshaw, Amanda S; Palumbos, Janice Cox; Parikh, Aditi Shah; Perilla-Young, Yezmin; Powell, Cynthia M; Person, Richard; Desai, Megha; Piard, Juliette; Pfundt, Rolph; Scala, Marcello; Serey-Gaut, Margaux; Shears, Deborah; Slavotinek, Anne; Suri, Mohnish; Turner, Claire; Tvrdik, Tatiana; Weiss, Karin; Wentzensen, Ingrid M; Zollino, Marcella; Hsieh, Tzung-Chien; de Vries, Bert B A; Guillemot, Francois; Dobyns, William B; Viskochil, David; Dias, Cristina

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

女性X连锁ZC4H2基因的有害新生变异会导致神经源性多发性先天性关节挛缩症的表型变化。

Frints, Suzanna G M; Hennig, Friederike; Colombo, Roberto; Jacquemont, Sebastien; Terhal, Paulien; Zimmerman, Holly H; Hunt, David; Mendelsohn, Bryce A; Kordaß, Ulrike; Webster, Richard; Sinnema, Margje; Abdul-Rahman, Omar; Suckow, Vanessa; Fernández-Jaén, Alberto; van Roozendaal, Kees; Stevens, Servi J C; Macville, Merryn V E; Al-Nasiry, Salwan; van Gassen, Koen; Utzig, Norbert; Koudijs, Suzanne M; McGregor, Lesley; Maas, Saskia M; Baralle, Diana; Dixit, Abhijit; Wieacker, Peter; Lee, Marcus; Lee, Arthur S; Engle, Elizabeth C; Houge, Gunnar; Gradek, Gyri A; Douglas, Andrew G L; Longman, Cheryl; Joss, Shelagh; Velasco, Danita; Hennekam, Raoul C; Hirata, Hiromi; Kalscheuer, Vera M