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Phenocopy 拟表型
Humangenetik Pub Date : 2020-02-02 DOI: 10.32388/n88xn4
{"title":"Phenocopy","authors":"","doi":"10.32388/n88xn4","DOIUrl":"https://doi.org/10.32388/n88xn4","url":null,"abstract":"A phenotypic trait or disease that resembles the trait expressed by a particular genotype, but in an individual who is not a carrier of that genotype. For example, breast cancer in a hereditary breast/ovarian cancer syndrome family member who does not carry the family’s BRCA1 or BRCA2 mutation would be considered a phenocopy. Such an individual does not have the family’s cancer-related mutation and therefore, they do not have the associated cancer risk from that specific mutation. Qeios · Definition, November 29, 2019","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69637953","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
Neues zur Genetik und Klassifikation der Muskeldystrophien 关于肌肉疾病分类的新数据
Humangenetik Pub Date : 2005-01-01 DOI: 10.1007/BF01789595
P. Becker
{"title":"Neues zur Genetik und Klassifikation der Muskeldystrophien","authors":"P. Becker","doi":"10.1007/BF01789595","DOIUrl":"https://doi.org/10.1007/BF01789595","url":null,"abstract":"","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"17 1","pages":"1-22"},"PeriodicalIF":0.0,"publicationDate":"2005-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF01789595","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"51717254","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: 16
Association between C′3 phenotypes and various diseases C ' 3表型与多种疾病之间的关系
Humangenetik Pub Date : 2005-01-01 DOI: 10.1007/BF01789600
D. Farhud, R. Ananthakrishnan, H. Walter
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引用次数: 9
Kreatin-Phosphokinase-Aktivität im Serum bei Konduktorinnen der progressiven Muskeldystrophie vom Typ Duchenne 磷脂肌肤磷脂活跃于血清中由杜松恩种循序渐进肌肉衰竭的辅导员进行
Humangenetik Pub Date : 2004-01-01 DOI: 10.1007/BF00278777
W. Barthelmai
{"title":"Kreatin-Phosphokinase-Aktivität im Serum bei Konduktorinnen der progressiven Muskeldystrophie vom Typ Duchenne","authors":"W. Barthelmai","doi":"10.1007/BF00278777","DOIUrl":"https://doi.org/10.1007/BF00278777","url":null,"abstract":"","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"10 1","pages":"366"},"PeriodicalIF":0.0,"publicationDate":"2004-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00278777","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"51183647","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
Zur Frage der Verteilung der ABO-Blutgruppen bei an Scharlach erkrankten Kindern 关于美国黑社会的贫血
Humangenetik Pub Date : 2004-01-01 DOI: 10.1007/BF00280577
W. Kircher
{"title":"Zur Frage der Verteilung der ABO-Blutgruppen bei an Scharlach erkrankten Kindern","authors":"W. Kircher","doi":"10.1007/BF00280577","DOIUrl":"https://doi.org/10.1007/BF00280577","url":null,"abstract":"","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"34 1","pages":"249-252"},"PeriodicalIF":0.0,"publicationDate":"2004-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00280577","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"51187142","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
Cat Eye-Syndrom 猫Eye-Syndrom
Humangenetik Pub Date : 2004-01-01 DOI: 10.1007/BF00285379
J. Kunze, M. Tolksdorf, H. Wiedemann
{"title":"Cat Eye-Syndrom","authors":"J. Kunze, M. Tolksdorf, H. Wiedemann","doi":"10.1007/BF00285379","DOIUrl":"https://doi.org/10.1007/BF00285379","url":null,"abstract":"","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"26 1","pages":"271-289"},"PeriodicalIF":0.0,"publicationDate":"2004-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00285379","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"51200166","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
Anomalie d'un chromosome du groupe C chez plusieurs membres d'une même famille 同一家族多个成员的C组染色体异常
Humangenetik Pub Date : 2004-01-01 DOI: 10.1007/BF00286801
I. Emerit, P. Vernant
{"title":"Anomalie d'un chromosome du groupe C chez plusieurs membres d'une même famille","authors":"I. Emerit, P. Vernant","doi":"10.1007/BF00286801","DOIUrl":"https://doi.org/10.1007/BF00286801","url":null,"abstract":"","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"6 1","pages":"326-334"},"PeriodicalIF":0.0,"publicationDate":"2004-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00286801","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"51205609","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
Mutationsvorgänge bei der Entstehung von Hämoglobinvarianten 引起血红蛋白变异的突变过程
Humangenetik Pub Date : 2004-01-01 DOI: 10.1007/BF00281051
F. Vogel, G. Röhrborn
{"title":"Mutationsvorgänge bei der Entstehung von Hämoglobinvarianten","authors":"F. Vogel, G. Röhrborn","doi":"10.1007/BF00281051","DOIUrl":"https://doi.org/10.1007/BF00281051","url":null,"abstract":"","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"1 1","pages":"635-650"},"PeriodicalIF":0.0,"publicationDate":"2004-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00281051","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"51188177","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
Weitere Untersuchungen zur Frage der unterschiedlichen Selektionswertigkeit im ABO-Blutgruppensystem 进一步研究abo血群系统的选择列定论
Humangenetik Pub Date : 2004-01-01 DOI: 10.1007/BF00281962
G. Jörgensen, G. Schwarz
{"title":"Weitere Untersuchungen zur Frage der unterschiedlichen Selektionswertigkeit im ABO-Blutgruppensystem","authors":"G. Jörgensen, G. Schwarz","doi":"10.1007/BF00281962","DOIUrl":"https://doi.org/10.1007/BF00281962","url":null,"abstract":"","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"5 1","pages":"254-260"},"PeriodicalIF":0.0,"publicationDate":"2004-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00281962","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"51193674","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
Untersuchungen zum Polymorphismus der Galaktose-1-Phosphat-Uridyltransferase (EC: 2.7.7.12) mittels Agarosegelelektrophorese 运用a
Humangenetik Pub Date : 2004-01-01 DOI: 10.1007/BF00283590
P. Kühnl, L. Nowicki, W. Spielmann
{"title":"Untersuchungen zum Polymorphismus der Galaktose-1-Phosphat-Uridyltransferase (EC: 2.7.7.12) mittels Agarosegelelektrophorese","authors":"P. Kühnl, L. Nowicki, W. Spielmann","doi":"10.1007/BF00283590","DOIUrl":"https://doi.org/10.1007/BF00283590","url":null,"abstract":"","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"24 1","pages":"227-230"},"PeriodicalIF":0.0,"publicationDate":"2004-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00283590","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"51196809","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: 9
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