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

Healthcare navigation services support access to gender-affirming care: A qualitative analysis of chat conversations

医疗导航服务支持获得性别肯定护理:聊天对话的定性分析

Sexton Topper, Patrina; Choi, Seul Ki; Hall-Grix, Arianna; Fernandez, Enmanuel Minaya; Marshall, Jaclyn

Bioprinting Perfusion-Enabled Liver Equivalents for Advanced Organ-on-a-Chip Applications

生物打印灌注型肝脏等效物用于先进的芯片器官应用

Grix, Tobias; Ruppelt, Alicia; Thomas, Alexander; Amler, Anna-Klara; Noichl, Benjamin P; Lauster, Roland; Kloke, Lutz

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

下颌面骨发育不全伴小头畸形:突变和数据库更新

Huang, Lijia; Vanstone, Megan R; Hartley, Taila; Osmond, Matthew; Barrowman, Nick; Allanson, Judith; Baker, Laura; Dabir, Tabib A; Dipple, Katrina M; Dobyns, William B; Estrella, Jane; Faghfoury, Hanna; Favaro, Francine P; Goel, Himanshu; Gregersen, Pernille A; Gripp, Karen W; Grix, Art; Guion-Almeida, Maria-Leine; Harr, Margaret H; Hudson, Cindy; Hunter, Alasdair G W; Johnson, John; Joss, Shelagh K; Kimball, Amy; Kini, Usha; Kline, Antonie D; Lauzon, Julie; Lildballe, Dorte L; López-González, Vanesa; Martinezmoles, Johanna; Meldrum, Cliff; Mirzaa, Ghayda M; Morel, Chantal F; Morton, Jenny E V; Pyle, Louise C; Quintero-Rivera, Fabiola; Richer, Julie; Scheuerle, Angela E; Schönewolf-Greulich, Bitten; Shears, Deborah J; Silver, Josh; Smith, Amanda C; Temple, I Karen; van de Kamp, Jiddeke M; van Dijk, Fleur S; Vandersteen, Anthony M; White, Sue M; Zackai, Elaine H; Zou, Ruobing; Bulman, Dennis E; Boycott, Kym M; Lines, Matthew A

CDKL5 and ARX mutations in males with early-onset epilepsy

男性早发性癫痫患者的 CDKL5 和 ARX 基因突变

Mirzaa, Ghayda M; Paciorkowski, Alex R; Marsh, Eric D; Berry-Kravis, Elizabeth M; Medne, Livija; Alkhateeb, Asem; Grix, Art; Wirrell, Elaine C; Powell, Berkley R; Nickels, Katherine C; Burton, Barbara; Paras, Andrea; Kim, Katherine; Chung, Wendy; Dobyns, William B; Das, Soma

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

由 EFTUD2 编码的剪接体 GTP 酶的单倍体功能不全会导致下颌面骨发育不全伴小头畸形

Lines, Matthew A; Huang, Lijia; Schwartzentruber, Jeremy; Douglas, Stuart L; Lynch, Danielle C; Beaulieu, Chandree; Guion-Almeida, Maria Leine; Zechi-Ceide, Roseli Maria; Gener, Blanca; Gillessen-Kaesbach, Gabriele; Nava, Caroline; Baujat, Geneviève; Horn, Denise; Kini, Usha; Caliebe, Almuth; Alanay, Yasemin; Utine, Gulen Eda; Lev, Dorit; Kohlhase, Jürgen; Grix, Arthur W; Lohmann, Dietmar R; Hehr, Ute; Böhm, Detlef; Majewski, Jacek; Bulman, Dennis E; Wieczorek, Dagmar; Boycott, Kym M

Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks

先天性膈疝位于8p23.1染色体上的区间,其特征是遗传学和蛋白质相互作用网络

Longoni, Mauro; Lage, Kasper; Russell, Meaghan K; Loscertales, Maria; Abdul-Rahman, Omar A; Baynam, Gareth; Bleyl, Steven B; Brady, Paul D; Breckpot, Jeroen; Chen, Chih P; Devriendt, Koenraad; Gillessen-Kaesbach, Gabriele; Grix, Arthur W; Rope, Alan F; Shimokawa, Osamu; Strauss, Bernarda; Wieczorek, Dagmar; Zackai, Elaine H; Coletti, Caroline M; Maalouf, Faouzi I; Noonan, Kristin M; Park, Ji H; Tracy, Adam A; Lee, Charles; Donahoe, Patricia K; Pober, Barbara R

Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting

细胞骨架蛋白SPECC1L缺乏会导致斜面裂

Saadi, Irfan; Alkuraya, Fowzan S; Gisselbrecht, Stephen S; Goessling, Wolfram; Cavallesco, Resy; Turbe-Doan, Annick; Petrin, Aline L; Harris, James; Siddiqui, Ursela; Grix, Arthur W Jr; Hove, Hanne D; Leboulch, Philippe; Glover, Thomas W; Morton, Cynthia C; Richieri-Costa, Antonio; Murray, Jeffrey C; Erickson, Robert P; Maas, Richard L

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

PNKP基因突变会导致小头畸形、癫痫和DNA修复缺陷。

Shen, Jun; Gilmore, Edward C; Marshall, Christine A; Haddadin, Mary; Reynolds, John J; Eyaid, Wafaa; Bodell, Adria; Barry, Brenda; Gleason, Danielle; Allen, Kathryn; Ganesh, Vijay S; Chang, Bernard S; Grix, Arthur; Hill, R Sean; Topcu, Meral; Caldecott, Keith W; Barkovich, A James; Walsh, Christopher A

Auditory hair cell precursors immortalized from the mammalian inner ear

哺乳动物内耳中永生化的听觉毛细胞前体

Rivolta, M N; Grix, N; Lawlor, P; Ashmore, J F; Jagger, D J; Holley, M C