about
Portal for Families Overcoming Neurodevelopmental Disorders (PFOND): Implementation of a Software Framework for Facilitated Community Website Creation by Nontechnical VolunteersCuboCube: Student creation of a cancer genetics e-textbook using open-access software for social learning.Strabismus genetics across a spectrum of eye misalignment disordersLoss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.Exome Sequencing and the Management of Neurometabolic Disorders.Detecting somatic mosaicism: considerations and clinical implications.Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities.Curation and bioinformatic analysis of strabismus genes supports functional heterogeneity and proposes candidate genes with connections to RASopathies
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Q28682129-7CFE3D3E-597B-429C-8D34-6423D7906F05Q30491079-878D8707-2F77-4EE7-9A17-ABB434DC2186Q34407419-25943798-F209-4BF1-A6ED-8115EDAF684BQ36615476-88284A17-9546-4D56-AB26-6D33D13CD71AQ37171865-0B33D400-1CD2-47F1-8114-95FB3B3A7902Q38249605-46A0CE00-9990-4A80-9DE6-8598411CAA87Q41929055-09EAA828-D718-42E5-9D8E-F64BC651C88FQ91649997-3A604C2A-A19F-4F34-9B8B-CADB0C7E61A4
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description
investigador
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researcher
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name
X C Ye
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type
label
X C Ye
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X C Ye
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P31
P496
0000-0002-1255-5797