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

Heart Transplantation in Children with Mitochondrial Disease

线粒体疾病患儿的心脏移植

Weiner, Jeffrey G; Lambert, Andrea N; Thurm, Cary; Hall, Matt; Soslow, Jonathan H; Reimschisel, Tyler E; Bearl, David W; Dodd, Debra A; Feingold, Brian; Godown, Justin

Work, Health, Safety and Well-Being: Current State of the Art

工作、健康、安全和福祉:当前最新进展

Williams, S Elizabeth; Edwards, Kathryn M; Baxter, Roger P; LaRussa, Philip S; Halsey, Neal A; Dekker, Cornelia L; Vellozzi, Claudia; Marchant, Colin D; Donofrio, Peter D; Reimschisel, Tyler E; Berger, Melvin; Gidudu, Jane F; Klein, Nicola P; Takatorige, Toshio; Hirose, Yukio; Nagamatsu, Shingo; Zhao, Qiguo; Huang, Jikun; Jain, Aditya; Leka, Stavroula; Zwetsloot, Gerard I J M

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia

编码 GPI 转酰胺酶复合物蛋白的 GPAA1 基因突变会导致发育迟缓、癫痫、小脑萎缩和骨质减少。

Nguyen, Thi Tuyet Mai; Murakami, Yoshiko; Sheridan, Eamonn; Ehresmann, Sophie; Rousseau, Justine; St-Denis, Anik; Chai, Guoliang; Ajeawung, Norbert F; Fairbrother, Laura; Reimschisel, Tyler; Bateman, Alexandra; Berry-Kravis, Elizabeth; Xia, Fan; Tardif, Jessica; Parry, David A; Logan, Clare V; Diggle, Christine; Bennett, Christopher P; Hattingh, Louise; Rosenfeld, Jill A; Perry, Michael Scott; Parker, Michael J; Le Deist, Françoise; Zaki, Maha S; Ignatius, Erika; Isohanni, Pirjo; Lönnqvist, Tuula; Carroll, Christopher J; Johnson, Colin A; Gleeson, Joseph G; Kinoshita, Taroh; Campeau, Philippe M

Response to Newman et al

对 Newman 等人的回应

Parikh, Sumit; Goldstein, Amy; Karaa, Amel; Koenig, Mary Kay; Anselm, Irina; Brunel-Guitton, Catherine; Christodoulou, John; Cohen, Bruce H; Dimmock, David; Enns, Gregory M; Falk, Marni J; Feigenbaum, Annette; Frye, Richard E; Ganesh, Jaya; Griesemer, David; Haas, Richard; Horvath, Rita; Korson, Mark; Kruer, Michael C; Mancuso, Michelangelo; McCormack, Shana; Josee Raboisson, Marie; Reimschisel, Tyler; Salvarinova, Ramona; Saneto, Russell P; Scaglia, Fernando; Shoffner, John; Stacpoole, Peter W; Sue, Carolyn M; Tarnopolsky, Mark; Van Karnebeek, Clara; Wolfe, Lynne A; Zolkipli Cunningham, Zarazuela; Rahman, Shamima; Chinnery, Patrick F

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

原发性线粒体疾病患者护理标准:线粒体医学学会共识声明

Parikh, Sumit; Goldstein, Amy; Karaa, Amel; Koenig, Mary Kay; Anselm, Irina; Brunel-Guitton, Catherine; Christodoulou, John; Cohen, Bruce H; Dimmock, David; Enns, Gregory M; Falk, Marni J; Feigenbaum, Annette; Frye, Richard E; Ganesh, Jaya; Griesemer, David; Haas, Richard; Horvath, Rita; Korson, Mark; Kruer, Michael C; Mancuso, Michelangelo; McCormack, Shana; Raboisson, Marie Josee; Reimschisel, Tyler; Salvarinova, Ramona; Saneto, Russell P; Scaglia, Fernando; Shoffner, John; Stacpoole, Peter W; Sue, Carolyn M; Tarnopolsky, Mark; Van Karnebeek, Clara; Wolfe, Lynne A; Cunningham, Zarazuela Zolkipli; Rahman, Shamima; Chinnery, Patrick F

A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria

BH4(沙丙蝶呤)辅助治疗苯丙酮尿症的系统评价

Lindegren, Mary Lou; Krishnaswami, Shanthi; Reimschisel, Tyler; Fonnesbeck, Christopher; Sathe, Nila A; McPheeters, Melissa L

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A

新的 9q34.11 基因缺失包含四种孟德尔遗传病基因的组合:STXBP1、SPTAN1、ENG 和 TOR1A

Campbell, Ian M; Yatsenko, Svetlana A; Hixson, Patricia; Reimschisel, Tyler; Thomas, Matthew; Wilson, William; Dayal, Usha; Wheless, James W; Crunk, Amy; Curry, Cynthia; Parkinson, Nicole; Fishman, Leona; Riviello, James J; Nowaczyk, Malgorzata J M; Zeesman, Susan; Rosenfeld, Jill A; Bejjani, Bassem A; Shaffer, Lisa G; Cheung, Sau Wai; Lupski, James R; Stankiewicz, Pawel; Scaglia, Fernando

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148

2q21.1区域存在罕见的小型复发性缺失和相互重复,包括脑特异性ARHGEF4和GPR148基因缺失和重复。

Dharmadhikari, Avinash V; Kang, Sung-Hae L; Szafranski, Przemyslaw; Person, Richard E; Sampath, Srirangan; Prakash, Siddharth K; Bader, Patricia I; Phillips, John A 3rd; Hannig, Vickie; Williams, Misti; Vinson, Sherry S; Wilfong, Angus A; Reimschisel, Tyler E; Craigen, William J; Patel, Ankita; Bi, Weimin; Lupski, James R; Belmont, John; Cheung, Sau Wai; Stankiewicz, Pawel

Detection of clinically relevant exonic copy-number changes by array CGH

利用阵列比较基因组杂交技术检测具有临床意义的外显子拷贝数变异

Boone, Philip M; Bacino, Carlos A; Shaw, Chad A; Eng, Patricia A; Hixson, Patricia M; Pursley, Amber N; Kang, Sung-Hae L; Yang, Yaping; Wiszniewska, Joanna; Nowakowska, Beata A; del Gaudio, Daniela; Xia, Zhilian; Simpson-Patel, Gayle; Immken, LaDonna L; Gibson, James B; Tsai, Anne C-H; Bowers, Jennifer A; Reimschisel, Tyler E; Schaaf, Christian P; Potocki, Lorraine; Scaglia, Fernando; Gambin, Tomasz; Sykulski, Maciej; Bartnik, Magdalena; Derwinska, Katarzyna; Wisniowiecka-Kowalnik, Barbara; Lalani, Seema R; Probst, Frank J; Bi, Weimin; Beaudet, Arthur L; Patel, Ankita; Lupski, James R; Cheung, Sau Wai; Stankiewicz, Pawel