日期 影响因子
日期:
2020 年 — 2026 年
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影响因子:
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The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy

超过17000名患有神经病变的夏科-马里-图斯病患者的等位基因谱

期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.106
DiVincenzo, Christina; Elzinga, Christopher D; Medeiros, Adam C; Karbassi, Izabela; Jones, Jeremiah R; Evans, Matthew C; Braastad, Corey D; Bishop, Crystal M; Jaremko, Malgorzata; Wang, Zhenyuan; Liaquat, Khalida; Hoffman, Carol A; York, Michelle D; Batish, Sat D; Lupski, James R; Higgins, Joseph J
发表日期：2014
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Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4

CMT4J 的独特遗传和临床特征：一种由 PI(3,5)P₂ 磷酸酶突变引起的严重神经病变 图4

期刊:Brain
影响因子:11.7
doi:10.1093/brain/awr148
Nicholson, Garth; Lenk, Guy M; Reddel, Stephen W; Grant, Adrienne E; Towne, Charles F; Ferguson, Cole J; Simpson, Ericka; Scheuerle, Angela; Yasick, Michelle; Hoffman, Stuart; Blouin, Randall; Brandt, Carla; Coppola, Giovanni; Biesecker, Leslie G; Batish, Sat D; Meisler, Miriam H
发表日期：2011
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Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group

FANCL基因突变的鉴定与表征：FA-L互补型范康尼贫血第二例

期刊:Human Mutation
影响因子:3.3
doi:10.1002/humu.21032
Abdullah Mahmood Ali, Michelle Kirby, Michael Jansen, Francis P Lach, Jennifer Schulte, Thiyam Ramsing Singh, Sat D Batish, Arleen D Auerbach, David A Williams, Amom Ruhikanta Meetei
代谢
贫血
发表日期：2009
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Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease

评估分子遗传学检测在多囊肾病诊断中的临床应用价值

期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2007.05.004
Garcia-Gonzalez, Miguel A; Jones, Jeffrey G; Allen, Susan K; Palatucci, Christopher M; Batish, Sat D; Seltzer, William K; Lan, Zheng; Allen, Erica; Qian, Feng; Lens, Xose M; Pei, York; Germino, Gregory G; Watnick, Terry J
发表日期：2007
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