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Publications by S J Charles

Marfan Syndrome: Fibrillin Expression and Microfibrillar Abnormalities in a Family With Predominant Ocular Defects.

Journal of Medical Genetics

English

Related publications

Double Mutant Fibrillin-1 (FBN1) Allele in a Patient With Neonatal Marfan Syndrome.

Journal of Medical Genetics

English

Microcornea and Subluxated Lenses Due to a Splicing Error in the Fibrillin-1 Gene in a Patient With Marfan Syndrome

Archives of Ophthalmology

English

Ten-Year Reinvestigation of Ocular Manifestations in Marfan Syndrome

Clinical and Experimental Ophthalmology

English

Classical and Neonatal Marfan Syndrome Mutations in Fibrillin-1 Cause Differential Protease Susceptibilities and Protein Function

Journal of Biological Chemistry

Molecular Biology

English

Exome Sequencing Identified New Mutations in a Marfan Syndrome Family

Diagnostic Pathology

Forensic Medicine

English

A Nonsense Mutation in the Fibrillin-1 Gene of a Marfan Syndrome Patient Induces NMD and Disrupts an Exonic Splicing Enhancer

Genes and Development

Developmental Biology

English

Wolfram Syndrome in a Family With Variable Expression

Acta medica (Hradec Kralove)

English

A Preface With Marfan^|^apos;s Syndrome

Juntendo Medical Journal

English

Scoliosis Associated With Marfan Syndrome

Journal of Korean Society of Spine Surgery

English