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Publications by Edward G. D. Tuddenham

A Novel Missense Mutation in ABCA1 Results in Altered Protein Trafficking and Reduced Phosphatidylserine Translocation in a Patient With Scott Syndrome

Blood

English

A Common Ancestral Glycoprotein (GP) 9 1828A>G (Asn45Ser) Gene Mutation Occurring in European Families From Australia and Northern Europe With Bernard-Soulier Syndrome (BSS)

Thrombosis and Haemostasis

Hematology

2005

English

Related publications

A Novel Missense Mutation of COL5A2 in a Patient With Ehlers–Danlos Syndrome

Human Genome Variation

English

A Novel Missense OPA1 Mutation in a Patient With Dominant Optic Atrophy and Cervical Dystonia

Movement Disorders Clinical Practice

Neurology

2018

English

Compound Heterozygous Hemophilia a in a Female Patient and the Identification of a Novel Missense Mutation, p.Met1093Ile

Molecular Medicine Reports

English

A Novel Missense Mutation in USP26 Gene Is Associated With Nonobstructive Azoospermia

Reproductive Sciences

Gynecology

Obstetrics

2016

English

A Novel Missense Mutation (G43S) in the Switch I Region of Rab27A Causing Griscelli Syndrome

Molecular Genetics and Metabolism

English

Novel Mutation in the AAAS Gene in a Severely Affected Triple-A Syndrome Patient

Endocrinology & Metabolic Syndrome

2015

English

A Novel POLG Gene Mutation in a Patient With SANDO

Journal of Experimental and Integrative Medicine

Alternative Medicine

Complementary

2012

English

A Novel Missense Mutation in the CYLD Gene in a Spanish Family With Multiple Familial Trichoepithelioma

Archives of Dermatology

2007

English

A Novel Homozygous Truncating Mutation in LAMB2 Gene in a Chinese Uyghur Patient With Severe Phenotype Pierson Syndrome

Frontiers in Medicine

Medicine

2019

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Edward G. D. Tuddenham

A Novel Missense Mutation in ABCA1 Results in Altered Protein Trafficking and Reduced Phosphatidylserine Translocation in a Patient With Scott Syndrome

A Common Ancestral Glycoprotein (GP) 9 1828A>G (Asn45Ser) Gene Mutation Occurring in European Families From Australia and Northern Europe With Bernard-Soulier Syndrome (BSS)

Related publications

A Novel Missense Mutation of COL5A2 in a Patient With Ehlers–Danlos Syndrome

A Novel Missense OPA1 Mutation in a Patient With Dominant Optic Atrophy and Cervical Dystonia

Compound Heterozygous Hemophilia a in a Female Patient and the Identification of a Novel Missense Mutation, p.Met1093Ile

A Novel Missense Mutation in USP26 Gene Is Associated With Nonobstructive Azoospermia

A Novel Missense Mutation (G43S) in the Switch I Region of Rab27A Causing Griscelli Syndrome

Novel Mutation in the AAAS Gene in a Severely Affected Triple-A Syndrome Patient

A Novel POLG Gene Mutation in a Patient With SANDO

A Novel Missense Mutation in the CYLD Gene in a Spanish Family With Multiple Familial Trichoepithelioma

A Novel Homozygous Truncating Mutation in LAMB2 Gene in a Chinese Uyghur Patient With Severe Phenotype Pierson Syndrome