Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Rachel M. Huckfeldt

Expanding the Phenotypic Spectrum in RDH12-associated Retinal Disease

Cold Spring Harbor molecular case studies

Molecular Medicine

English

Related publications

Expanding Disease Spectrum Associated With Puerperal Mastitis

Infectious Diseases in Obstetrics and Gynecology

Infectious Diseases

English

Expanding the Phenotypic Spectrum ofECEL1-related Congenital Contracture Syndromes

Clinical Genetics

English

Expanding the Spectrum of Particle-And Fiber-Associated Interstitial Lung Diseases

Turk Toraks Dergisi

Respiratory Medicine

English

POMGnT1 Mutation and Phenotypic Spectrum in Muscle-Eye-Brain Disease

Journal of Medical Genetics

English

Expanding the Phenotypic Spectrum of Succinyl-CoA Ligase Deficiency Through Functional Validation of a New SUCLG1 Variant

Molecular Genetics and Metabolism

Molecular Biology

English

Delineating the GRIN1 Phenotypic Spectrum

English

Disease-Associated Variants of Microsomal Retinol Dehydrogenase 12 (RDH12) Are Degraded at Mutant-Specific Rates

Molecular Biology

Structural Biology

English

Expanding the Spectrum of IDH1 Mutations in Gliomas

Modern Pathology

Forensic Medicine

English

Update on the Phenotypic Spectrum of Lesch-Nyhan Disease and Its Attenuated Variants

Current Rheumatology Reports

English