首页>美国卫生研究院文献>Cold Spring Harbor Molecular Case Studies

Cold Spring Harbor Molecular Case Studies

【机译】：冷泉港分子案例

ISSN：-
出版周期：
语言：English

起始发布年份：2015
出版者：[Cold Spring Harbor, NY] : Cold Spring Harbor Laboratory Press, [2015]-
出版地：United States

数据库引入：PubMed: v1n1, Oct. 2015-, PMC

MeSH词表主题词：Genomics*; Metabolomics*

备注：Description based on: Volume 1, number 1 (October 2015); title from cover image展开▼

期刊论文

热门论文

年度选择

更多>>

全选（0）

1.Esophageal cancer as initial presentation of Fanconi anemia in patients with a hypomorphic

机译：食管癌作为患者患有警长患者的初步介绍
- 作者：Francis P. Lach;Sonia Singh;Kimberly A. Rickman;Penelope D. Ruiz;Raymond J. Noonan;Kenneth B. Hymes;Mark D. DeLacure;Jennifer A. Kennedy;Settara C. Chandrasekharappa;Agata Smogorzewska
- 期刊名称：《Cold Spring Harbor Molecular Case Studies》 | 2020年第6期
- esophageal carcinoma;
- oropharyngeal squamous cell carcinoma;
2.Case report: 16-yr life history and genomic evolution of an ER

机译：案例报告：er的16年生活历史和基因组演进
- 作者：Bing Xu;Anu Amallraja;Padmapriya Swaminathan;Rachel Elsey;Christel Davis;Stephanie Theel;Sarah Viet;Jason Petersen;Amy Krie;Gareth Davies;Casey B. Williams;Erik Ehli;Tobias Meißner
- 期刊名称：《Cold Spring Harbor Molecular Case Studies》 | 2020年第6期
- multifocal breast carcinoma;
3.Recurrent

机译：复发
- 作者：Dong-Anh Khuong-Quang;Lauren M. Brown;Marie Wong;Chelsea Mayoh;Alexandra Sexton-Oates;Amit Kumar;Mark Pinese;Sumanth Nagabushan;Loretta Lau;Louise E. Ludlow;Andrew J. Gifford;Michael Rodriguez;Jayesh Desai;Stephen B. Fox;Michelle Haber;David S. Ziegler;Jordan R. Hansford;Glenn M. Marshall;Mark J. Cowley;Paul G. Ekert
- 期刊名称：《Cold Spring Harbor Molecular Case Studies》 | 2020年第6期
- neoplasm of the central nervous system;
4.Treatment response and tumor evolution: lessons from an extended series of multianalyte liquid biopsies in a metastatic breast cancer patient

机译：治疗响应和肿瘤演化：从转移乳腺癌患者中延长系列多层液体活组织检查的课程
- 作者：Lisa Welter;Liya Xu;Dillon McKinley;Angel E. Dago;Rishvanth K. Prabakar;Sara Restrepo-Vassalli;Kevin Xu;Mariam Rodriguez-Lee;Anand Kolatkar;Rafael Nevarez;Carmen Ruiz;Jorge Nieva;Peter Kuhn;James Hicks
- 期刊名称：《Cold Spring Harbor Molecular Case Studies》 | 2020年第6期
- neoplasm of the breast;
5.Novel de novo

机译：再次小说
- 作者：Timothy Tidwell;Malia Deshotel;Janice Palumbos;Chris Miller;Pinar Bayrak-Toydemir;John C. Carey
- 期刊名称：《Cold Spring Harbor Molecular Case Studies》 | 2020年第6期
6.Aplastic anemia in a patient with CVID due to NFKB1 haploinsufficiency

机译：由于NFKB1臭氧质量CVID的患者中的增殖性贫血
- 作者：Tammarah Sklarz;Stephanie N. Hurwitz;Natasha L. Stanley;Jane Juusola;Adam Bagg;Daria Babushok
- 期刊名称：《Cold Spring Harbor Molecular Case Studies》 | 2020年第6期
7.Prolonged survival and response to tepotinib in a non-small-cell lung cancer patient with brain metastases harboring

机译：在患有脑转移的非小细胞肺癌患者中延长生存和对枝醇的反应患有脑转移
- 作者：Katherine G. Roth;Isa Mambetsariev;Ravi Salgia
- 期刊名称：《Cold Spring Harbor Molecular Case Studies》 | 2020年第6期
- lung adenocarcinoma;
8.NAA10 variant in 38-week-gestation male patient: a case study

机译：NAA10 Variant在38周妊娠男性患者：一个案例研究
- 作者：Antara Afrin;Jeremy W. Prokop;Adam Underwood;Katie L. Uhl;Elizabeth A. VanSickle;Roja Baruwal;Morgan Wajda;Surender Rajasekaran;Caleb Bupp
- 期刊名称：《Cold Spring Harbor Molecular Case Studies》 | 2020年第6期
9.Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury

机译：具有全球发展延迟和自我损伤的患者中引起3Q28当前的不平衡易位和10Q26.2的缺失的表征
- 作者：Ikeoluwa A. Osei-Owusu;Alexis L. Norris;Anya T. Joynt;Jeremy Thorpe;Soonweng Cho;Elaine Tierney;Jonathan Schmidt;Louis Hagopian;Jacqueline Harris;Jonathan Pevsner
- 期刊名称：《Cold Spring Harbor Molecular Case Studies》 | 2020年第6期
- attention deficit hyperactivity disorder;
- autism;
- intellectual disability;
- severe;
- language impairment;
10.The gut microbiome: a missing link in understanding the gastrointestinal manifestations of COVID-19?

机译：肠道微生物组：在理解Covid-19的胃肠道表现时缺少链接？
- 作者：Erin F. Brooks;Ami S. Bhatt
- 期刊名称：《Cold Spring Harbor Molecular Case Studies》 | 2021年第2期
11.Blood cancer health disparities in the United States Hispanic population

机译：美国西班牙裔人口的血癌健康差异
- 作者：Alfonso E. Bencomo-Alvarez;Andres J. Rubio;Mayra A. Gonzalez;Anna M. Eiring
- 期刊名称：《Cold Spring Harbor Molecular Case Studies》 | 2021年第2期
12.Assessing acquired resistance to IDH1 inhibitor therapy by full-exon IDH1 sequencing and structural modeling

机译：通过全外显子IDH1测序和结构建模评估对IDH1抑制剂治疗的获得性抗性
- 作者：Zoltán N. Oltvai;Susan E. Harley;David Koes;Stephen Michel;Erica D. Warlick;Andrew C. Nelson;Sophia Yohe;Pawel Mroz
- 期刊名称：《Cold Spring Harbor Molecular Case Studies》 | 2021年第2期
13.A novel variant of CDK19 causes a severe neurodevelopmental disorder with infantile spasms

机译：CDK19的新型变体导致严重的神经发育障碍与婴儿痉挛
- 作者：Shenghai Yang;Weishi Yu;Qian Chen;Xiaodong Wang
- 期刊名称：《Cold Spring Harbor Molecular Case Studies》 | 2021年第2期
14.Severe multisystem pathology metabolic acidosis mitochondrial dysfunction and early death associated with an X-linked AIFM1 variant

机译：严重的多系统病理学代谢酸中毒线粒体功能障碍和与X键合AIFM1变体相关的早期死亡
- 作者：Tonya Moss;Melanie May;Heather Flanagan-Steet;Raymond Caylor;Yong-Hui Jiang;Marie McDonald;Michael Friez;Allyn McConkie-Rosell;Richard Steet
- 期刊名称：《Cold Spring Harbor Molecular Case Studies》 | 2021年第3期
15.A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy

机译：uba5相关早期癫痫病变中的新型变体和综述对表型谱的描述
- 作者：Lauren C. Briere;Melissa A. Walker;Frances A. High;Cynthia Cooper;Cassandra A. Rogers;Christine J. Callahan;Ryosuke Ishimura;Yoshinobu Ichimura;Paul A. Caruso;Nutan Sharma;Elly Brokamp;Mary E. Koziura;Shekeeb S. Mohammad;Russell C. Dale;Lisa G. Riley;John A. Phillips;Masaaki Komatsu;David A. Sweetser
- 期刊名称：《Cold Spring Harbor Molecular Case Studies》 | 2021年第3期
16.Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay

机译：缺失ERF和CIC会导致异常头骨形态和全球发展延迟
- 作者：Ram Singh;Ana S.A. Cohen;Cathryn Poulton;Tina Duelund Hjortshøj;Moe Akahira-Azuma;Geetu Mendiratta;Wahab A. Khan;Dimitar N. Azmanov;Karen J. Woodward;Maria Kirchhoff;Lisong Shi;Lisa Edelmann;Gareth Baynam;Stuart A. Scott;Ethylin Wang Jabs
- 期刊名称：《Cold Spring Harbor Molecular Case Studies》 | 2021年第3期
17.Expanding the genotypic spectrum of ACTG2-related visceral myopathy

机译：扩大actg2相关内脏肌病的基因型谱
- 作者：Kiely N. James;Megan Lau;Katayoon Shayan;Jerica Lenberg;Rebecca Mardach;Romeo Ignacio Jr.;Jonathan Halbach;Lillian Choi;Soma Kumar;Katarzyna A. Ellsworth
- 期刊名称：《Cold Spring Harbor Molecular Case Studies》 | 2021年第3期
18.Common clonal origin of chronic myelomonocytic leukemia and B-cell acute lymphoblastic leukemia in a patient with a germline CHEK2 variant

机译：患者患者慢性骨髓细胞白血病和B细胞急性淋巴细胞白血病的常见克隆源性
- 作者：Alexandre Bazinet;John Heath;Anne-Sophie Chong;Estelle R. Simo-Cheyou;Samantha Worme;Barbara Rivera Polo;William D. Foulkes;Stephen Caplan;Nathalie A. Johnson;Alexandre Orthwein;François E. Mercier
- 期刊名称：《Cold Spring Harbor Molecular Case Studies》 | 2021年第3期
19.Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency

机译：干燥血液斑点的后期全基因组测序鉴定了一种新型纯合SUOX变体导致分离的亚硫酸盐氧化酶缺乏
- 作者：Mallory J. Owen;Jerica Lenberg;Annette Feigenbaum;Jeffrey Gold;Kevin Chau;Zaira Bezares-Orin;Yan Ding;Shimul Chowdhury;Stephen F. Kingsmore
- 期刊名称：《Cold Spring Harbor Molecular Case Studies》 | 2021年第3期
20.Functional impact of a germline RET mutation in alveolar rhabdomyosarcoma

机译：种系RET突变在肺泡横纹肌肉瘤中的功能影响
- 作者：Noah E. Berlow;Kenneth A. Crawford;Carol J. Bult;Christopher Noakes;Ido Sloma;Erin R. Rudzinski;Charles Keller
- 期刊名称：《Cold Spring Harbor Molecular Case Studies》 | 2021年第3期