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Publications by P. Kuentz

LB1539 Genotype-First Phenotyping of 32 Patients With Post-Zygotic GNAQ or GNA11 Mutations

Journal of Investigative Dermatology

Molecular Biology

English

MED13L-related Intellectual Disability: Involvement of Missense Variants and Delineation of the Phenotype

Molecular Neuroscience

English

Related publications

GNAS, GNAQ, and GNA11 Alterations in Patients With Diverse Cancers

Cancer Research

English

GNAQ and GNA11 Mutations in Melanocytomas of the Central Nervous System

Acta Neuropathologica

Forensic Medicine

Molecular Neuroscience

English

Detection of BRAF, NRAS, KIT, GNAQ, GNA11 and MAP2K1/2 Mutations in Russian Melanoma Patients Using LNA PCR Clamp and Biochip Analysis

English

390 Second-Hit, Post-Zygotic PMVKand MVD Mutations Cause Linear Porokeratosis

Journal of Investigative Dermatology

Molecular Biology

English

Genotype-Phenotype Correlations in PCD Patients Carrying DNAH5 Mutations

Respiratory Medicine

English

Novel Genotype-Phenotype and MRI Correlations in a Large Cohort of Patients With SPG7 Mutations

Neurology: Genetics

English

Tumor Cell Phenotyping: Circulating Tumor Cell Phenotyping via High-Throughput Acoustic Separation (Small 32/2018)

Materials Science

English

Deep Phenotyping: Deep Learning for Temporal Phenotype/Genotype Classification

English

Glycerol Kinase (GK) Point Mutations in Patients With Isolated GK Deficiency: Possible Genotype-Phenotype Relationships

Pediatric Research

English