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Journal of genetic syndromes & gene therapy最新文献

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Autoimmune Lymphoproliferative Syndrome 自身免疫性淋巴细胞增生综合征
Journal of genetic syndromes & gene therapy Pub Date : 2022-09-12 DOI: 10.1007/978-3-319-66816-1_12-1
J. E. van der Werff ten Bosch, M. van den Akker
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引用次数: 0
T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy T细胞免疫缺陷，先天性脱发和指甲营养不良
Journal of genetic syndromes & gene therapy Pub Date : 2022-01-01 DOI: 10.1007/978-3-319-66816-1_103-1
V. Gallo, G. Giardino, E. Cirillo, C. Pignata
{"title":"T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy","authors":"V. Gallo, G. Giardino, E. Cirillo, C. Pignata","doi":"10.1007/978-3-319-66816-1_103-1","DOIUrl":"https://doi.org/10.1007/978-3-319-66816-1_103-1","url":null,"abstract":"","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"63 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77711239","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
Griscelli Syndrome Type 3 (GS3) Griscelli综合征3型(GS3)
Journal of genetic syndromes & gene therapy Pub Date : 2021-12-23 DOI: 10.1007/978-3-319-66816-1_1127-1
S. Mushtaq
{"title":"Griscelli Syndrome Type 3 (GS3)","authors":"S. Mushtaq","doi":"10.1007/978-3-319-66816-1_1127-1","DOIUrl":"https://doi.org/10.1007/978-3-319-66816-1_1127-1","url":null,"abstract":"","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"2 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90925905","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
Smith-Lemli-Opitz Syndrome (SLOS) Smith-Lemli-Opitz综合征
Journal of genetic syndromes & gene therapy Pub Date : 2021-12-09 DOI: 10.1007/978-3-319-66816-1_501-1
Rami A Ballout
{"title":"Smith-Lemli-Opitz Syndrome (SLOS)","authors":"Rami A Ballout","doi":"10.1007/978-3-319-66816-1_501-1","DOIUrl":"https://doi.org/10.1007/978-3-319-66816-1_501-1","url":null,"abstract":"","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"74 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85165873","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
STK4 Deficiency STK4不足
Journal of genetic syndromes & gene therapy Pub Date : 2021-01-01 DOI: 10.1007/978-3-319-66816-1_102-1
Parnian Shobeiri, N. Rezaei
{"title":"STK4 Deficiency","authors":"Parnian Shobeiri, N. Rezaei","doi":"10.1007/978-3-319-66816-1_102-1","DOIUrl":"https://doi.org/10.1007/978-3-319-66816-1_102-1","url":null,"abstract":"","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"71 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79881402","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
Griscelli Syndrome (Type 2) Griscelli综合征(2型)
Journal of genetic syndromes & gene therapy Pub Date : 2021-01-01 DOI: 10.1007/978-3-319-66816-1_46-1
G. Dückers, N. Rezaei
{"title":"Griscelli Syndrome (Type 2)","authors":"G. Dückers, N. Rezaei","doi":"10.1007/978-3-319-66816-1_46-1","DOIUrl":"https://doi.org/10.1007/978-3-319-66816-1_46-1","url":null,"abstract":"","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"55 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78250271","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
Hyper-IgD Syndrome (HIDS) 高igd综合征(HIDS)
Journal of genetic syndromes & gene therapy Pub Date : 2021-01-01 DOI: 10.1007/978-3-319-66816-1_53-1
Homa Seyedmirzaei, N. Rezaei
{"title":"Hyper-IgD Syndrome (HIDS)","authors":"Homa Seyedmirzaei, N. Rezaei","doi":"10.1007/978-3-319-66816-1_53-1","DOIUrl":"https://doi.org/10.1007/978-3-319-66816-1_53-1","url":null,"abstract":"","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"24 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87960248","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
Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome (LICS) 肺部疾病、免疫缺陷和染色体断裂综合征(LICS)
Journal of genetic syndromes & gene therapy Pub Date : 2021-01-01 DOI: 10.1007/978-3-319-66816-1_69-1
Elham Rayzan, N. Rezaei
{"title":"Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome (LICS)","authors":"Elham Rayzan, N. Rezaei","doi":"10.1007/978-3-319-66816-1_69-1","DOIUrl":"https://doi.org/10.1007/978-3-319-66816-1_69-1","url":null,"abstract":"","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"52 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74377308","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
Hermansky-Pudlak Syndrome 10 (HSP10)
Journal of genetic syndromes & gene therapy Pub Date : 2021-01-01 DOI: 10.1007/978-3-319-66816-1_50-1
Parnian Jabbari, N. Rezaei
{"title":"Hermansky-Pudlak Syndrome 10 (HSP10)","authors":"Parnian Jabbari, N. Rezaei","doi":"10.1007/978-3-319-66816-1_50-1","DOIUrl":"https://doi.org/10.1007/978-3-319-66816-1_50-1","url":null,"abstract":"","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"78 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85917787","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
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome 免疫失调、多内分泌失调、肠病、x连锁综合征
Journal of genetic syndromes & gene therapy Pub Date : 2021-01-01 DOI: 10.1007/978-3-319-66816-1_62-1
S. Perazzio, T. Torgerson, L. Andrade
{"title":"Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome","authors":"S. Perazzio, T. Torgerson, L. Andrade","doi":"10.1007/978-3-319-66816-1_62-1","DOIUrl":"https://doi.org/10.1007/978-3-319-66816-1_62-1","url":null,"abstract":"","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"65 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79599982","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: 117
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