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Publications by K. Duffin

213 Initial Explorations Into Genotype-Phenotype Correlations in Psoriasis: The Homozygous Recessive Model

Journal of Investigative Dermatology

Molecular Biology

English

Related publications

Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations

Multidisciplinary

English

Phenotype-Genotype Correlations in X Linked Retinitis Pigmentosa.

Journal of Medical Genetics

English

Phenotype in Homozygous and Heterozygous Carriers of BEST1 Mutations in Autosomal Recessive Bestrophinopathy

Acta Ophthalmologica

English

Genotype-Phenotype Correlations in PCD Patients Carrying DNAH5 Mutations

Respiratory Medicine

English

Early Infantile SCN1A Epileptic Encephalopathy: Expanding the Genotype-Phenotype Correlations

Seizure : the journal of the British Epilepsy Association

English

Genotype-Phenotype Correlations in Type B Niemann-Pick Disease • 725

Pediatric Research

English

Titin Truncating Variants in Dilated Cardiomyopathy – Prevalence and Genotype-Phenotype Correlations

Multidisciplinary

English

Genotype-Phenotype Correlations in Joubert Syndrome in the Era of Next Generation Sequencing

English

A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations

Journal of Developmental and Behavioral Pediatrics

Educational Psychology

English