Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Simon P. Robins

A Connective Tissue Disorder Caused by Mutations of the Lysyl Hydroxylase 3 Gene

American Journal of Human Genetics

English

Related publications

Connective Tissue Disorder Due to Lysyl Hydroxylase-3 Deficiency

English

Lysyl Hydroxylase 3 Is a Multifunctional Protein Possessing Collagen Glucosyltransferase Activity

Journal of Biological Chemistry

Molecular Biology

English

A Human Immunodeficiency Caused by Mutations in the PIK3R1 Gene

Journal of Clinical Investigation

English

Bone and Connective Tissue Disorders Caused by Defects in Glycosaminoglycan Biosynthesis: A Panoramic View

Molecular Biology

English

Connective Tissue Growth Factor Gene Regulation

Journal of Biological Chemistry

Molecular Biology

English

Aged Onset of Amyloidosis Caused by Transthyretin Gene Mutations.

Japanese Journal of Geriatrics

English

Hereditary Spastic Paraplegia Caused by Mutations in the SPG4 Gene

European Journal of Human Genetics

English

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by Mutations in the IFT140 Gene

English

Clinical Course of Cone Dystrophy Caused by Mutations in the RPGR Gene

Graefe's Archive for Clinical and Experimental Ophthalmology

Molecular Neuroscience

Sensory Systems

English