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

Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.

与 SLC17A5 组织特异性嵌合相关的非典型游离唾液酸贮积症

Shinawi Marwan, Wegner Daniel J, Paul Alexander J, Buchser William, Schmidt Robert, Sharma Jaiprakash, Sardiello Marco, Sisco Kathleen, Manwaring Linda, Reynolds Margaret, Fulton Robert, Fronick Catrina, Shaver Andrew, Huang Tina Y, Carroll Ashley, Roessler Kyria, Halpern Aaron L, Dickson Patricia I, Wambach Jennifer A

ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum

ITSN1:一种与常染色体显性神经发育障碍谱系相关的新型候选基因

Bruel, Ange-Line; Vitobello, Antonio; Thiffault, Isabelle; Manwaring, Linda; Willing, Marcia; Agrawal, Pankaj B; Bayat, Allan; Kitzler, Thomas M; Brownstein, Catherine A; Genetti, Casie A; Gonzalez-Heydrich, Joseph; Jayakar, Parul; Zyskind, Jacob W; Zhu, Zehua; Vachet, Clemence; Wilson, Gena R; Pruniski, Brianna; Goyette, Anne-Marie; Duffourd, Yannis; Thauvin-Robinet, Christel; Philippe, Christophe; Faivre, Laurence

Infantile-onset Pompe disease complicated by sickle cell anemia: Case report and management considerations

婴儿期发病的庞贝病合并镰状细胞贫血:病例报告及治疗考虑

Starosta, Rodrigo Tzovenos; Hou, Ying-Chen Claire; Leestma, Katelyn; Singh, Prapti; Viehl, Luke; Manwaring, Linda; Granadillo, Jorge Luis; Schroeder, Molly C; Colombo, Jamie N; Whitehead, Halana; Dickson, Patricia Irene; Hulbert, Monica L; Nguyen, Hoanh Thi

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

突变特异性的病理生理机制定义了与SATB1功能障碍相关的不同神经发育障碍。

den Hoed, Joery; de Boer, Elke; Voisin, Norine; Dingemans, Alexander J M; Guex, Nicolas; Wiel, Laurens; Nellaker, Christoffer; Amudhavalli, Shivarajan M; Banka, Siddharth; Bena, Frederique S; Ben-Zeev, Bruria; Bonagura, Vincent R; Bruel, Ange-Line; Brunet, Theresa; Brunner, Han G; Chew, Hui B; Chrast, Jacqueline; Cimbalistienė, Loreta; Coon, Hilary; Délot, Emmanuèlle C; Démurger, Florence; Denommé-Pichon, Anne-Sophie; Depienne, Christel; Donnai, Dian; Dyment, David A; Elpeleg, Orly; Faivre, Laurence; Gilissen, Christian; Granger, Leslie; Haber, Benjamin; Hachiya, Yasuo; Abedi, Yasmin Hamzavi; Hanebeck, Jennifer; Hehir-Kwa, Jayne Y; Horist, Brooke; Itai, Toshiyuki; Jackson, Adam; Jewell, Rosalyn; Jones, Kelly L; Joss, Shelagh; Kashii, Hirofumi; Kato, Mitsuhiro; Kattentidt-Mouravieva, Anja A; Kok, Fernando; Kotzaeridou, Urania; Krishnamurthy, Vidya; Kučinskas, Vaidutis; Kuechler, Alma; Lavillaureix, Alinoë; Liu, Pengfei; Manwaring, Linda; Matsumoto, Naomichi; Mazel, Benoît; McWalter, Kirsty; Meiner, Vardiella; Mikati, Mohamad A; Miyatake, Satoko; Mizuguchi, Takeshi; Moey, Lip H; Mohammed, Shehla; Mor-Shaked, Hagar; Mountford, Hayley; Newbury-Ecob, Ruth; Odent, Sylvie; Orec, Laura; Osmond, Matthew; Palculict, Timothy B; Parker, Michael; Petersen, Andrea K; Pfundt, Rolph; Preikšaitienė, Eglė; Radtke, Kelly; Ranza, Emmanuelle; Rosenfeld, Jill A; Santiago-Sim, Teresa; Schwager, Caitlin; Sinnema, Margje; Snijders Blok, Lot; Spillmann, Rebecca C; Stegmann, Alexander P A; Thiffault, Isabelle; Tran, Linh; Vaknin-Dembinsky, Adi; Vedovato-Dos-Santos, Juliana H; Schrier Vergano, Samantha A; Vilain, Eric; Vitobello, Antonio; Wagner, Matias; Waheeb, Androu; Willing, Marcia; Zuccarelli, Britton; Kini, Usha; Newbury, Dianne F; Kleefstra, Tjitske; Reymond, Alexandre; Fisher, Simon E; Vissers, Lisenka E L M

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results

外显子组诊所及医学遗传学专业知识在解读外显子组测序结果中的作用

Baldridge, Dustin; Heeley, Jennifer; Vineyard, Marisa; Manwaring, Linda; Toler, Tomi L; Fassi, Emily; Fiala, Elise; Brown, Sarah; Goss, Charles W; Willing, Marcia; Grange, Dorothy K; Kozel, Beth A; Shinawi, Marwan

Phenotypic characteristics of early Wolfram syndrome

早期沃尔夫拉姆综合征的表型特征

Marshall, Bess A; Permutt, M Alan; Paciorkowski, Alexander R; Hoekel, James; Karzon, Roanne; Wasson, Jon; Viehover, Amy; White, Neil H; Shimony, Joshua S; Manwaring, Linda; Austin, Paul; Hullar, Timothy E; Hershey, Tamara

Diffusion-weighted and dynamic contrast-enhanced imaging as markers of clinical behavior in children with optic pathway glioma

扩散加权成像和动态增强对比成像作为视路胶质瘤患儿临床行为的标志物

Jost, Sarah C; Ackerman, Joseph W; Garbow, Joel R; Manwaring, Linda P; Gutmann, David H; McKinstry, Robert C