Next Generation Sequencing Competence Network

Next Generation Sequencing Competence Network

e.g. CCGA
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Betz, Regina
One or more keywords matched the following items that are connected to Betz, Regina
Item TypeName
Academic Article Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes.
Academic Article Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
Concept Phenotype
Academic Article Localization of a gene for syndactyly type 1 to chromosome 2q34-q36.
Academic Article Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.
Academic Article Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.
Academic Article IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.
Academic Article A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the "O" in OCRL.
Academic Article Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes.
Academic Article Isolation and characterization of Saccharomyces cerevisiae mutants supersensitive to G1 arrest by the mating hormone a-factor.
Academic Article TP63-related disorders: two case reports and a brief review of the literature.
Academic Article GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.
Academic Article Phenotype diversity associated with TP63 mutations.
Academic Article Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia.
Academic Article Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type?
Academic Article A Novel Locus for Ectodermal Dysplasia of Hair, Nail and Skin Pigmentation Anomalies Maps to Chromosome 18p11.32-p11.31.
Academic Article A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
Academic Article Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci.
Academic Article Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.
Academic Article Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability.
Academic Article Parent-of-origin Effect in Alopecia Areata: A Large-scale Pedigree Study.
Academic Article Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3.
Academic Article Genetics and other factors in the aetiology of female pattern hair loss.
Academic Article Intra- and Interfamilial Phenotype Variability Associated with Mutations in ?-Secretase Subunit-Encoding PSENEN.
Academic Article Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.

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  • Phenotype
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