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One or more keywords matched the following items that are connected to Uitto, Jouni
Item TypeName
Concept Diagnosis, Differential
Concept Prenatal Diagnosis
Concept Preimplantation Diagnosis
Academic Article Need for a consensus on the methods by which to measure joint mobility and the definition of norms for hypermobility that reflect age, gender and ethnic-dependent variation: is revision of criteria for joint hypermobility syndrome and Ehlers-Danlos syndrome hypermobility type indicated?
Academic Article Progress in epidermolysis bullosa: summary of a workshop in CILAD-2010*.
Academic Article Progress in molecular genetics of heritable skin diseases: the paradigms of epidermolysis bullosa and pseudoxanthoma elasticum.
Academic Article Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.
Academic Article Probing the fetal genome: progress in non-invasive prenatal diagnosis.
Academic Article Linear IgA dermatosis with IgA and IgG autoantibodies to the 180 kDa bullous pemphigoid antigen (BP180): evidence for a distinct subtype.
Academic Article Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis.
Academic Article Pseudoxanthoma elasticum-like phenotypes: more diseases than one.
Academic Article Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects.
Academic Article The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB.
Academic Article Progress in heritable skin diseases: translational implications of mutation analysis and prospects of molecular therapies*.
Academic Article Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.
Academic Article Research Techniques Made Simple: Whole-Transcriptome Sequencing by RNA-Seq for Diagnosis of Monogenic Disorders.
Academic Article Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity.
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