WASHINGTON UNIVERSITY SCHOOL OF MEDICINE UNDIAGNOSED DISEASES NETWORK CLINICAL SITE
华盛顿大学医学院未确诊疾病网络临床网站
基本信息
- 批准号:10600550
- 负责人:
- 金额:$ 47.62万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2022
- 资助国家:美国
- 起止时间:2022-04-02 至 2023-04-30
- 项目状态:已结题
- 来源:
- 关键词:Academic Medical CentersAdministrative SupplementAdultBasic ScienceBioinformaticsBiologicalBiomedical ResearchCell modelCellsChildhoodClinicalClinical InvestigatorClinical ResearchClinical and Translational Science AwardsCollaborationsCommunitiesComputer ModelsConsentDataDiagnosisDideoxy Chain Termination DNA SequencingDiseaseDisease ManagementDocumentationEnvironmental ExposureEnzyme-Linked Immunosorbent AssayEvaluationExpert SystemsFacultyFamilyFunctional disorderFundingGenesGenomicsGenotypeIndividualInfrastructureInternationalLaboratoriesManuscriptsMethodsMethylationMolecularParticipantPathogenicityPatientsPhenotypeProcessProteinsProtocols documentationPublicationsResearch PersonnelResourcesReview CommitteeSecureSiteStandardizationTimeTrainingTranslational ResearchUnderrepresented MinorityUniversitiesVariantWashingtonWestern BlottingWorkclinical research sitedata disseminationdesigndisease diagnosisexperiencefollow-upgenomic dataimprovedinnovationmedical schoolsmetabolomicsoutreachrecruitresearch clinical testingstudent trainingsuccesstranscriptome sequencing
项目摘要
PROJECT SUMMARY
Not applicable to this supplement.
项目摘要
不适用于此补充。
项目成果
期刊论文数量(4)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration.
- DOI:10.1016/j.ajhg.2020.11.004
- 发表时间:2020-11
- 期刊:
- 影响因子:9.8
- 作者:Maya M. Polovitskaya;Carlo Barbini;D. Martinelli;Frederike L Harms;F. Sessions;Cole;Paolo Calligari;G. Bocchinfuso;L. Stella;Marcello;Niceta;T. Rizza;M. Shinawi;Kathleen Sisco;J. Johannsen;Jonas;Denecke;R. Carrozzo;D. Wegner;K. Kutsche;Marco;Tartaglia;T. Jentsch
- 通讯作者:Maya M. Polovitskaya;Carlo Barbini;D. Martinelli;Frederike L Harms;F. Sessions;Cole;Paolo Calligari;G. Bocchinfuso;L. Stella;Marcello;Niceta;T. Rizza;M. Shinawi;Kathleen Sisco;J. Johannsen;Jonas;Denecke;R. Carrozzo;D. Wegner;K. Kutsche;Marco;Tartaglia;T. Jentsch
Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.
- DOI:10.1002/ajmg.a.61962
- 发表时间:2021-03
- 期刊:
- 影响因子:0
- 作者:Granadillo JL;Wegner DJ;Paul AJ;Willing M;Sisco K;Tedder ML;Sadikovic B;Wambach JA;Baldridge D;Cole FS;Undiagnosed Diseases Network
- 通讯作者:Undiagnosed Diseases Network
Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams-Beuren syndrome.
- DOI:10.1002/ajmg.a.61522
- 发表时间:2020-05
- 期刊:
- 影响因子:0
- 作者:Lugo M;Wong ZC;Billington CJ Jr;Parrish PCR;Muldoon G;Liu D;Pober BR;Kozel BA
- 通讯作者:Kozel BA
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PATRICIA I DICKSON其他文献
PATRICIA I DICKSON的其他文献
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{{ truncateString('PATRICIA I DICKSON', 18)}}的其他基金
Postdoctoral Training Program in Genomic Medicine
基因组医学博士后培养项目
- 批准号:
10642810 - 财政年份:2021
- 资助金额:
$ 47.62万 - 项目类别:
Gene therapy with modified GlcNAc-1-phosphotransferase for mucolipidosis
使用修饰的 GlcNAc-1-磷酸转移酶基因治疗粘脂沉积症
- 批准号:
10317695 - 财政年份:2021
- 资助金额:
$ 47.62万 - 项目类别:
Postdoctoral Training Program in Genomic Medicine
基因组医学博士后培养项目
- 批准号:
10426027 - 财政年份:2021
- 资助金额:
$ 47.62万 - 项目类别:
Postdoctoral Training Program in Genomic Medicine
基因组医学博士后培养项目
- 批准号:
10089078 - 财政年份:2021
- 资助金额:
$ 47.62万 - 项目类别:
Washington University School of Medicine Undiagnosed Diseases Network Clinical Site
华盛顿大学医学院未确诊疾病网络临床站点
- 批准号:
10206222 - 财政年份:2018
- 资助金额:
$ 47.62万 - 项目类别:
WASHINGTON UNIVERSITY SCHOOL OF MEDICINE UNDIAGNOSED DISEASES NETWORK CLINICAL SITE
华盛顿大学医学院未确诊疾病网络临床网站
- 批准号:
10375221 - 财政年份:2018
- 资助金额:
$ 47.62万 - 项目类别:
Washington University School of Medicine Undiagnosed Diseases Network Clinical Site
华盛顿大学医学院未确诊疾病网络临床站点
- 批准号:
10696751 - 财政年份:2018
- 资助金额:
$ 47.62万 - 项目类别:
Washington University School of Medicine Undiagnosed Diseases Network Clinical Site
华盛顿大学医学院未确诊疾病网络临床站点
- 批准号:
10872919 - 财政年份:2018
- 资助金额:
$ 47.62万 - 项目类别:
Phenotypic effects of brain-directed enzyme therapy for Sanfilippo B syndrome
脑定向酶疗法对 Sanfilippo B 综合征的表型影响
- 批准号:
9000182 - 财政年份:2015
- 资助金额:
$ 47.62万 - 项目类别:
Phenotypic effects of brain-directed enzyme therapy for Sanfilippo B syndrome
脑定向酶疗法对 Sanfilippo B 综合征的表型影响
- 批准号:
9234075 - 财政年份:2015
- 资助金额:
$ 47.62万 - 项目类别:
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