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Publications by Judith Fischer

Identification of a Novel Missense Mutation in NIPAL4 Gene: First 3D Model Construction Predicted Its Pathogenicity

Molecular genetics & genomic medicine
GeneticsMolecular Biology
2019English

Ichthyosis Prematurity Syndrome: A Case Report and Review of Known Mutations

Pediatric Dermatology
DermatologyChild HealthPediatricsPerinatology
2014English

Epidermolysis Bullosa Hereditaria

Medizinische Genetik
Genetics
2019English

Two New Loci for Autosomal Recessive Ichthyosis on Chromosomes 3p21 and 19p12-Q12 and Evidence for Further Genetic Heterogeneity

American Journal of Human Genetics
Genetics
2000English

Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome

American Journal of Human Genetics
Genetics
2001English

Genetic Linkage of Meleda Disease to Chromosome 8qter

European Journal of Human Genetics
Genetics
1998English

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