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Publications by Robert J. Desnick

EXPLORE: A Prospective, Multinational, Natural History Study of Patients With Acute Hepatic Porphyria With Recurrent Attacks

English

Acute Hepatic Porphyrias: Recommendations for Evaluation and Long Term Management

English

An Ashkenazi Jewish SMN1 Haplotype Specific to Duplication Alleles Improves Pan-Ethnic Carrier Screening for Spinal Muscular Atrophy

Genetics in Medicine

English

Long-Read Single Molecule Real-Time Full Gene Sequencing of Cytochrome P450-2d6

English

Harderoporphyria Due to Homozygosity for Coproporphyrinogen Oxidase Missense Mutation H327R

Journal of Inherited Metabolic Disease

English

Erratum To: A Mutation in Taiwanese Newborns—Superiority of DNA-Based to Enzyme-Based Newborn Screening for Common Mutations

Molecular Medicine

Molecular Medicine

Molecular Biology

English

Feline Congenital Erythropoietic Porphyria: Two Homozygous UROS Missense Mutations Cause the Enzyme Deficiency and Porphyrin Accumulation

Molecular Medicine

Molecular Medicine

Molecular Biology

English

AB050. Later Onset Fabry Disease, Cardiac Damage Progress in Silence-Experience With a Highly Prevalent Mutation

Annals of Translational Medicine

English

Design and Validation of an Open-Source Modular Microplate Photoirradiation System for High-Throughput Photobiology Experiments

Multidisciplinary

English

Hepatoerythropoietic Porphyria Misdiagnosed as Child Abuse

Archives of Dermatology

English