Interpreting human genetic variation with in vivo zebrafish assays.
about
Zebrafish: A Versatile Animal Model for Fertility ResearchLoss of Function Mutations in NNT Are Associated With Left Ventricular NoncompactionHigh-throughput gene targeting and phenotyping in zebrafish using CRISPR/Cas9.A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.Function-driven discovery of disease genes in zebrafish using an integrated genomics big data resource.Newborn screening and the era of medical genomics.An extended set of yeast-based functional assays accurately identifies human disease mutations.Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis.Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders.The Power of Zebrafish in Personalised Medicine.Genetic studies in intellectual disability and related disorders.Building dialogues between clinical and biomedical research through cross-species collaborations.Transcriptomic insights into genetic diversity of protein-coding genes in X. laevis.Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.Modeling GATAD1-Associated Dilated Cardiomyopathy in Adult Zebrafish.Adoption of in vitro systems and zebrafish embryos as alternative models for reducing rodent use in assessments of immunological and oxidative stress responses to nanomaterials.The functional genomics laboratory: functional validation of genetic variants.Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.Novel CASK mutations in cases with syndromic microcephaly.A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features.Using Zebrafish for Investigating the Molecular Mechanisms of Drug-Induced Cardiotoxicity
P2860
Q26739099-81777CC0-3D23-450D-8C4B-48C8E1A523AFQ27340446-8D79FA15-D602-46C4-902F-2CBA77175868Q30407556-C315C0CB-3029-4440-8C5D-178F0F880E0DQ34336711-47134E18-499E-427B-AEEF-6FA76D0CA6A3Q34987350-26EAD343-97A9-4A89-BF2E-5A10A8A81E93Q36208711-541934D6-4439-4376-B107-1DE711F3E64DQ36279569-FD045590-C8F2-4FDC-963F-E26E54C9E750Q36893770-D9780E52-3A34-4FAF-B29D-BDF3BFF96FC2Q37589634-BD467345-9388-4163-BFCE-8EB93A6F8C1EQ38478012-F9A6AE71-B18E-4F12-B73C-6FF2377E6511Q38608686-9A8AED45-CD2B-443F-A74A-FAAC7F13D2A6Q38616789-31B713F9-DC19-4956-B105-C8714F45586DQ38745594-00B044A8-8B13-429B-8E42-ED80991E436BQ38914150-F341F47A-112D-47BF-A03D-BD53DE31E783Q41627953-1A5626C2-A305-4173-B7E2-762EF0A32C71Q41692598-606D4A24-B583-417A-8514-D14436B63DAEQ48119346-30D6DAE5-40EF-4E6B-9A60-5F20C96754D0Q49991801-00BA7AC9-1132-41A6-8834-D7E07F9E16D4Q50076522-A07C93B7-2CB6-48FD-B62A-4F2207FFA56EQ52565159-EFBA8153-DD0C-4295-817C-2B080BCD51E7Q55111206-E1A15354-7951-4F0B-8BF0-D1D23BC87664Q58548679-38543F3D-7176-4E8F-949B-EEC4F6DA7C96
P2860
Interpreting human genetic variation with in vivo zebrafish assays.
description
2014 nî lūn-bûn
@nan
2014 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Interpreting human genetic variation with in vivo zebrafish assays.
@ast
Interpreting human genetic variation with in vivo zebrafish assays.
@en
type
label
Interpreting human genetic variation with in vivo zebrafish assays.
@ast
Interpreting human genetic variation with in vivo zebrafish assays.
@en
prefLabel
Interpreting human genetic variation with in vivo zebrafish assays.
@ast
Interpreting human genetic variation with in vivo zebrafish assays.
@en
P2860
P1476
Interpreting human genetic variation with in vivo zebrafish assays.
@en
P2093
Erica E Davis
Stephan Frangakis
P2860
P304
P356
10.1016/J.BBADIS.2014.05.024
P407
P577
2014-06-02T00:00:00Z