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

A Novel Phenotypic Presentation of Absence Seizures in a 15-Month-Old with PIGK-Related GPI Biosynthesis Disorder: A Case Report

一例患有PIGK相关GPI生物合成障碍的15个月大婴儿出现新型失神发作表型的病例报告

Lateef, Shan; Lewanda, Amy Feldman; Weston, Julia; Bade, Sarah; Lessard, Jacklyn

De Novo Variant in the RPL27 Gene in a Second Infant with Diamond-Blackfan Anemia

第二例患有Diamond-Blackfan贫血症的婴儿中发现RPL27基因的新生变异

Glass, Joshua; Weston, Julia; Lewanda, Amy Feldman; Majumdar, Suvankar

Germline Saturation Mutagenesis Induces Skeletal Phenotypes in Mice

种系饱和诱变诱导小鼠骨骼表型

Rios, Jonathan J; Denton, Kristin; Russell, Jamie; Kozlitina, Julia; Ferreira, Carlos R; Lewanda, Amy F; Mayfield, Joshua E; Moresco, Eva; Ludwig, Sara; Tang, Miao; Li, Xiaohong; Lyon, Stephen; Khanshour, Anas; Paria, Nandina; Khalid, Aysha; Li, Yang; Xie, Xudong; Feng, Jian Q; Xu, Qian; Lu, Yongbo; Hammer, Robert E; Wise, Carol A; Beutler, Bruce

Opportunities, barriers, and recommendations in down syndrome research

唐氏综合征研究的机遇、障碍和建议

Hendrix, James A; Amon, Angelika; Abbeduto, Leonard; Agiovlasitis, Stamatis; Alsaied, Tarek; Anderson, Heather A; Bain, Lisa J; Baumer, Nicole; Bhattacharyya, Anita; Bogunovic, Dusan; Botteron, Kelly N; Capone, George; Chandan, Priya; Chase, Isabelle; Chicoine, Brian; Cieuta-Walti, Cécile; DeRuisseau, Lara R; Durand, Sophie; Esbensen, Anna; Fortea, Juan; Giménez, Sandra; Granholm, Ann-Charlotte; Hahn, Laura J; Head, Elizabeth; Hillerstrom, Hampus; Jacola, Lisa M; Janicki, Matthew P; Jasien, Joan M; Kamer, Angela R; Kent, Raymond D; Khor, Bernard; Lawrence, Jeanne B; Lemonnier, Catherine; Lewanda, Amy Feldman; Mobley, William; Moore, Paul E; Nelson, Linda Pollak; Oreskovic, Nicolas M; Osorio, Ricardo S; Patterson, David; Rasmussen, Sonja A; Reeves, Roger H; Roizen, Nancy; Santoro, Stephanie; Sherman, Stephanie L; Talib, Nasreen; Tapia, Ignacio E; Walsh, Kyle M; Warren, Steven F; White, A Nicole; Wong, Guang William; Yi, John S

ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous

ATOH7 突变导致常染色体隐性遗传的原发性玻璃体持续增生

Lev Prasov, Tehmina Masud, Shagufta Khaliq, S Qasim Mehdi, Aiysha Abid, Edward R Oliver, Eduardo D Silva, Amy Lewanda, Michael C Brodsky, Mark Borchert, Daniel Kelberman, Jane C Sowden, Mehul T Dattani, Tom Glaser

Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum

人类层粘连蛋白β2 (LAMB2) 基因突变及其相关表型谱

Matejas, Verena; Hinkes, Bernward; Alkandari, Faisal; Al-Gazali, Lihadh; Annexstad, Ellen; Aytac, Mehmet B; Barrow, Margaret; Bláhová, Kveta; Bockenhauer, Detlef; Cheong, Hae Il; Maruniak-Chudek, Iwona; Cochat, Pierre; Dötsch, Jörg; Gajjar, Priya; Hennekam, Raoul C; Janssen, Françoise; Kagan, Mikhail; Kariminejad, Ariana; Kemper, Markus J; Koenig, Jens; Kogan, Jillene; Kroes, Hester Y; Kuwertz-Bröking, Eberhard; Lewanda, Amy F; Medeira, Ana; Muscheites, Jutta; Niaudet, Patrick; Pierson, Michel; Saggar, Anand; Seaver, Laurie; Suri, Mohnish; Tsygin, Alexey; Wühl, Elke; Zurowska, Aleksandra; Uebe, Steffen; Hildebrandt, Friedhelm; Antignac, Corinne; Zenker, Martin