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Publications by John J. DiGiovanna

Ocular Manifestations of Xeroderma Pigmentosum

Ophthalmology
Ophthalmology
2013English

Chimeric Negative Regulation Ofp14ARFandTBX1by a T(9;22) Translocation Associated With Melanoma, Deafness, and DNA Repair Deficiency

Human Mutation
Genetics
2013English

Mortality-Associated Immunological Abnormalities in Trichothiodystrophy: Correlation of Reduced Levels of Immunoglobulin and Neutrophils With Poor Patient Survival

British Journal of Haematology
Hematology
2018English

Comparing Histopathology From Patients With X-Linked Recessive Ichthyosis and Autosomal Recessive Congenital Ichthyosis With Transglutaminase 1 Mutation: A Report From the National Registry for Ichthyosis and Related Skin Disorders

Journal of the American Academy of Dermatology
Dermatology
2016English

Growth and Nutrition in Children With Trichothiodystrophy

Journal of Pediatric Gastroenterology and Nutrition
Child HealthPediatricsPerinatologyGastroenterology
2014English

Nucleotide Excision Repair Proteins Rapidly Accumulate but Fail to Persist in Human XP-E (DDB2 Mutant) Cells

Photochemistry and Photobiology
MedicineTheoretical ChemistryRadiationBiochemistryPhysical
2011English

Histopathologic Characterization of Epidermolytic Hyperkeratosis: A Systematic Review of Histology From the National Registry for Ichthyosis and Related Skin Disorders

Journal of the American Academy of Dermatology
Dermatology
2008English

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