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Publications by Anthony J. van Essen

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated With Craniofacial, Neurological, Cardiovascular, and Skeletal Features

American Journal of Human Genetics

Genetics

2018

English

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated With Craniofacial, Neurological, Cardiovascular, and Skeletal Features

American Journal of Human Genetics

Genetics

2018

English

Related publications

Mutations in KCNK4 That Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

American Journal of Human Genetics

Genetics

2018

English

Investigating the Effects of Missense Mutations in MSH2 Gene Associated With Lynch Syndrome

Biophysical Journal

Biophysics

2019

English

Biallelic Deletions of the Waardenburg II Syndrome Gene, SOX10 , Cause a Recognizable Arthrogryposis Syndrome

American Journal of Medical Genetics, Part A

Genetics

2018

English

TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome

American Journal of Human Genetics

Genetics

2008

English

Long-Qt Syndrome-Associated Missense Mutations in the Pore Helix of the HERG Potassium Channel

Circulation

Cardiovascular Medicine

Physiology

Cardiology

2001

English

Mutations in KARS Cause a Severe Neurological and Neurosensory Disease With Optic Neuropathy

Human Mutation

Genetics

2019

English

Functional Characterization of Bestrophin-1 Missense Mutations Associated With Autosomal Recessive Bestrophinopathy

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

English

Down Syndrome as a Cause of Abnormalities in the Craniofacial Region: A Systematic Literature Review

Advances in Clinical and Experimental Medicine

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Anthony J. van Essen

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated With Craniofacial, Neurological, Cardiovascular, and Skeletal Features

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated With Craniofacial, Neurological, Cardiovascular, and Skeletal Features

Related publications

Mutations in KCNK4 That Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

Investigating the Effects of Missense Mutations in MSH2 Gene Associated With Lynch Syndrome

Biallelic Deletions of the Waardenburg II Syndrome Gene, SOX10 , Cause a Recognizable Arthrogryposis Syndrome

TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome

Long-Qt Syndrome-Associated Missense Mutations in the Pore Helix of the HERG Potassium Channel

Mutations in KARS Cause a Severe Neurological and Neurosensory Disease With Optic Neuropathy

Functional Characterization of Bestrophin-1 Missense Mutations Associated With Autosomal Recessive Bestrophinopathy

Down Syndrome as a Cause of Abnormalities in the Craniofacial Region: A Systematic Literature Review