Search Result Details

This page shows the details of why an item matched the keywords from your search.
One or more keywords matched the following items that are connected to Uitto, Jouni
Item TypeName
Concept Family
Concept Family Health
Concept Multigene Family
Academic Article Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families.
Academic Article ZNT4 gene is not responsible for acrodermatitis enteropathica in Japanese families.
Academic Article Interspecies conservation and differential expression of mouse desmoglein gene family.
Academic Article Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.
Academic Article Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5.
Academic Article Plectin deficient epidermolysis bullosa simplex with 27-year-history of muscular dystrophy.
Academic Article The gene family of ABC transporters--novel mutations, new phenotypes.
Academic Article A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.
Academic Article Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.
Academic Article Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities.
Academic Article Clinical phenotypes and ABCC6 gene mutations in brazilian families with pseudoxanthoma elasticum.
Academic Article Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes.
Academic Article Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1.
Academic Article The Kindler Syndrome: A Spectrum of FERMT1 Mutations in Iranian Families.
Academic Article Whole Genome Linkage Analysis Followed by Whole Exome Sequencing Identifies Nicastrin (NCSTN) as a Causative Gene in a Multiplex Family with ?-Secretase Spectrum of Autoinflammatory Skin Phenotypes.
Academic Article KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family.
Academic Article Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.
Academic Article Gene-Targeted Next-Generation Sequencing Identifies a Novel CLDN1 Mutation in a Consanguineous Family With NISCH Syndrome.
Academic Article Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa.
Academic Article Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.
Academic Article A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis.
Academic Article Homozygous ITGA3 Missense Mutation in Adults in a Family with Syndromic Epidermolysis Bullosa (ILNEB) without Pulmonary Involvement.
Academic Article Homozygous MEFV Gene Variant and Pyrin-Associated Autoinflammation With Neutrophilic Dermatosis: A Family With a Novel Autosomal Recessive Mode of Inheritance.
Academic Article Recalcitrant Cutaneous Warts in a Family with Inherited ICOS Deficiency.
Search Criteria
  • Family