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One or more keywords matched the following items that are connected to LIU, PENGFEI
Item TypeName
Academic Article Mechanisms for recurrent and complex human genomic rearrangements.
Academic Article Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.
Concept Genetic Diseases, Inborn
Concept Genetic Diseases, X-Linked
Academic Article Molecular findings among patients referred for clinical whole-exome sequencing.
Academic Article Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome.
Academic Article Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects.
Academic Article Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
Academic Article An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Academic Article Lessons learned from additional research analyses of unsolved clinical exome cases.
Academic Article Identification of novel candidate disease genes from de novo exonic copy number variants.
Academic Article Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Academic Article Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
Academic Article Insights into genetics, human biology and disease gleaned from family based genomic studies.
Academic Article Reanalysis of Clinical Exome Sequencing Data.
Search Criteria
  • Genetic Diseases Inborn