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Current genetic medicine reports最新文献

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Advances in Epigenetics and Epigenomics in Chronic Lymphocytic Leukemia 慢性淋巴细胞白血病表观遗传学和表观基因组学研究进展
IF 2.1
Current genetic medicine reports Pub Date : 2019-11-27 DOI: 10.1007/s40142-019-00178-3
C. Xanthopoulos, E. Kostareli
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引用次数: 4
An Overview of the Homozygous Cystic Fibrosis Transmembrane Conductance Regulator Mutation c.3700 A>G (p.Ile1234Val) in Qatar 纯合子囊性纤维化跨膜传导调节基因突变c.3700的研究综述卡塔尔的b> G (p.i ile1234val)
IF 2.1
Current genetic medicine reports Pub Date : 2019-11-22 DOI: 10.1007/s40142-019-00174-7
S. Hammoudeh, Wessam Gadelhak, A. Abdulwahab, M. Al-Langawi, I. Janahi
{"title":"An Overview of the Homozygous Cystic Fibrosis Transmembrane Conductance Regulator Mutation c.3700 A>G (p.Ile1234Val) in Qatar","authors":"S. Hammoudeh, Wessam Gadelhak, A. Abdulwahab, M. Al-Langawi, I. Janahi","doi":"10.1007/s40142-019-00174-7","DOIUrl":"https://doi.org/10.1007/s40142-019-00174-7","url":null,"abstract":"","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"7 1","pages":"187 - 190"},"PeriodicalIF":2.1,"publicationDate":"2019-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-019-00174-7","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42932185","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Laboratory Stewardship for Clinical Genetic Testing 临床基因检测的实验室管理
IF 2.1
Current genetic medicine reports Pub Date : 2019-11-06 DOI: 10.1007/s40142-019-00175-6
Jessie H. Conta
{"title":"Laboratory Stewardship for Clinical Genetic Testing","authors":"Jessie H. Conta","doi":"10.1007/s40142-019-00175-6","DOIUrl":"https://doi.org/10.1007/s40142-019-00175-6","url":null,"abstract":"","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"7 1","pages":"180 - 186"},"PeriodicalIF":2.1,"publicationDate":"2019-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-019-00175-6","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42286003","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Multigene Cancer Panels: Implications for Pre- and Post-test Genetic Counseling 多基因癌症小组:检测前和检测后遗传咨询的意义
IF 2.1
Current genetic medicine reports Pub Date : 2019-11-04 DOI: 10.1007/s40142-019-00173-8
Margo C. Grady, Kavitha A. Kolla, B. Peshkin
{"title":"Multigene Cancer Panels: Implications for Pre- and Post-test Genetic Counseling","authors":"Margo C. Grady, Kavitha A. Kolla, B. Peshkin","doi":"10.1007/s40142-019-00173-8","DOIUrl":"https://doi.org/10.1007/s40142-019-00173-8","url":null,"abstract":"","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"7 1","pages":"169 - 179"},"PeriodicalIF":2.1,"publicationDate":"2019-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-019-00173-8","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48892754","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Biobanks in the Era of Genomic Data 基因组数据时代的生物银行
IF 2.1
Current genetic medicine reports Pub Date : 2019-09-01 DOI: 10.1007/s40142-019-00171-w
J. Savatt, Cassandra J. Pisieczko, Yanfei Zhang, M. Lee, W. Faucett, Janet L. Williams
{"title":"Biobanks in the Era of Genomic Data","authors":"J. Savatt, Cassandra J. Pisieczko, Yanfei Zhang, M. Lee, W. Faucett, Janet L. Williams","doi":"10.1007/s40142-019-00171-w","DOIUrl":"https://doi.org/10.1007/s40142-019-00171-w","url":null,"abstract":"","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"7 1","pages":"153 - 161"},"PeriodicalIF":2.1,"publicationDate":"2019-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-019-00171-w","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45894570","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Molecular Autopsy for Sudden Cardiac Death: Current State and Considerations 心源性猝死的分子解剖:现状和考虑
IF 2.1
Current genetic medicine reports Pub Date : 2019-09-01 DOI: 10.1007/s40142-019-00170-x
Kate M. Orland, K. Anderson
{"title":"Molecular Autopsy for Sudden Cardiac Death: Current State and Considerations","authors":"Kate M. Orland, K. Anderson","doi":"10.1007/s40142-019-00170-x","DOIUrl":"https://doi.org/10.1007/s40142-019-00170-x","url":null,"abstract":"","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"7 1","pages":"145 - 152"},"PeriodicalIF":2.1,"publicationDate":"2019-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-019-00170-x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49250673","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 4
Spinal Muscular Atrophy (SMA) in the Therapeutic Era 治疗时代的脊髓性肌肉萎缩症
IF 2.1
Current genetic medicine reports Pub Date : 2019-09-01 DOI: 10.1007/s40142-019-00172-9
M. Gibbons, A. Stratton, J. Parsons
{"title":"Spinal Muscular Atrophy (SMA) in the Therapeutic Era","authors":"M. Gibbons, A. Stratton, J. Parsons","doi":"10.1007/s40142-019-00172-9","DOIUrl":"https://doi.org/10.1007/s40142-019-00172-9","url":null,"abstract":"","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"7 1","pages":"162 - 167"},"PeriodicalIF":2.1,"publicationDate":"2019-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-019-00172-9","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42238518","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Clinical Analysis of Whole Genome Sequencing in Cancer Patients 癌症患者全基因组测序的临床分析
IF 2.1
Current genetic medicine reports Pub Date : 2019-06-01 DOI: 10.1007/s40142-019-00169-4
A. Berner, George J. Morrissey, N. Murugaesu
{"title":"Clinical Analysis of Whole Genome Sequencing in Cancer Patients","authors":"A. Berner, George J. Morrissey, N. Murugaesu","doi":"10.1007/s40142-019-00169-4","DOIUrl":"https://doi.org/10.1007/s40142-019-00169-4","url":null,"abstract":"","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"7 1","pages":"136-143"},"PeriodicalIF":2.1,"publicationDate":"2019-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-019-00169-4","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45407013","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 13
Cancer Genomics for Oncologists: Cancer Risk and Management of BRCA1 and BRCA2 Carriers 癌症肿瘤学家基因组学：BRCA1和BRCA2携带者的癌症风险和管理
IF 2.1
Current genetic medicine reports Pub Date : 2019-06-01 DOI: 10.1007/s40142-019-00167-6
A. George
{"title":"Cancer Genomics for Oncologists: Cancer Risk and Management of BRCA1 and BRCA2 Carriers","authors":"A. George","doi":"10.1007/s40142-019-00167-6","DOIUrl":"https://doi.org/10.1007/s40142-019-00167-6","url":null,"abstract":"","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"7 1","pages":"116-123"},"PeriodicalIF":2.1,"publicationDate":"2019-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-019-00167-6","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49439280","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Changing Role of the Genetic Counsellor in the Genomics Era 基因顾问在基因组学时代的角色变化
IF 2.1
Current genetic medicine reports Pub Date : 2019-06-01 DOI: 10.1007/s40142-019-00163-w
Kelly Kohut, Sharne Limb, G. Crawford
{"title":"The Changing Role of the Genetic Counsellor in the Genomics Era","authors":"Kelly Kohut, Sharne Limb, G. Crawford","doi":"10.1007/s40142-019-00163-w","DOIUrl":"https://doi.org/10.1007/s40142-019-00163-w","url":null,"abstract":"","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"7 1","pages":"75-84"},"PeriodicalIF":2.1,"publicationDate":"2019-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-019-00163-w","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42003701","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 10
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