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

Laparoscopic cecal pole resection for LAMN a case report

腹腔镜下盲肠极切除术治疗低级别恶性肿瘤:病例报告

Usenko, Olexandr; Voitiv, Yaroslav; Vladyslav, Kropelnytskyi; Andrii, Borysenko; Makarov, Vladyslav; Ivan, Romasko

3323 Juvenile Polyposis Syndrome Patients Without a Mutation in SMAD4 or BMPR1A: Clinical Presentation and Novel Drivers of Disease

3323 例 SMAD4 或 BMPR1A 基因无突变的幼年性息肉综合征患者:临床表现和新的致病因素

Balciuniene, Jorune; DeChene, Elizabeth T; Akgumus, Gozde; Romasko, Edward J; Cao, Kajia; Dubbs, Holly A; Mulchandani, Surabhi; Spinner, Nancy B; Conlin, Laura K; Marsh, Eric D; Goldberg, Ethan; Helbig, Ingo; Sarmady, Mahdi; Abou Tayoun, Ahmad; MacFarland, Suzanne; Ebrahimzadeh, Jessica; Zelley, Kristin; Mamula, Petar; Brodeur, Garrett; Katona, Bryson

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

临床基因组测序的次要发现:来自多中心研究的患病率、患者视角、家族史评估和医疗保健成本

Hart, M Ragan; Biesecker, Barbara B; Blout, Carrie L; Christensen, Kurt D; Amendola, Laura M; Bergstrom, Katie L; Biswas, Sawona; Bowling, Kevin M; Brothers, Kyle B; Conlin, Laura K; Cooper, Greg M; Dulik, Matthew C; East, Kelly M; Everett, Jessica N; Finnila, Candice R; Ghazani, Arezou A; Gilmore, Marian J; Goddard, Katrina A B; Jarvik, Gail P; Johnston, Jennifer J; Kauffman, Tia L; Kelley, Whitley V; Krier, Joel B; Lewis, Katie L; McGuire, Amy L; McMullen, Carmit; Ou, Jeffrey; Plon, Sharon E; Rehm, Heidi L; Richards, C Sue; Romasko, Edward J; Miren Sagardia, Ane; Spinner, Nancy B; Thompson, Michelle L; Turbitt, Erin; Vassy, Jason L; Wilfond, Benjamin S; Veenstra, David L; Berg, Jonathan S; Green, Robert C; Biesecker, Leslie G; Hindorff, Lucia A

Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders

外显子组测序在儿童遗传性血小板疾病分子诊断中的应用及局限性

Romasko, Edward J; Devkota, Batsal; Biswas, Sawona; Jayaraman, Vijayakumar; Rajagopalan, Ramakrishnan; Dulik, Matthew C; Thom, Christopher S; Choi, Jiwon; Jairam, Sowmya; Scarano, Maria I; Krantz, Ian D; Spinner, Nancy B; Conlin, Laura K; Lambert, Michele P

Association of maternal mRNA and phosphorylated EIF4EBP1 variants with the spindle in mouse oocytes: localized translational control supporting female meiosis in mammals

母体 mRNA 和磷酸化 EIF4EBP1 变体与小鼠卵母细胞纺锤体的关联:支持哺乳动物雌性减数分裂的局部翻译控制

Edward J Romasko, Dasari Amarnath, Uros Midic, Keith E Latham