Judith D. Ranells

Chromosome Abnormalities and Genetic Counseling

A New Variant of Charcot-Marie-Tooth Disease Type 2 Is Probably the Result of a Mutation in the Neurofilament-Light Gene

Molecular Mechanisms of Stress-Responsive Changes in Collagen and Elastin Networks in Skin

A Pragmatic Guide to Enrichment Strategies for Mass Spectrometry–Based Glycoproteomics

Health Supervision for Children With Down Syndrome

Amyotrophic Lateral Sclerosis

Golgi Glycosylation and Human Inherited Diseases

The utility of elastic Verhoeff‐Van Gieson staining in dermatopathology

45,X/47,XYY mosaicism: Clinical discrepancy between prenatally and postnatally diagnosed cases

Localization of the giant axonal neuropathy gene to chromosome 16q24

Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation