Discover open access scientific publications

Search, annotate, share and cite publications

Publications by W. Nillesen

Noonan Syndrome: Comparing Mutation-Positive With Mutation-Negative Dutch Patients

Molecular Syndromology

English

Related publications

Cancer Risk in Patients With Noonan Syndrome Carrying a PTPN11 Mutation

European Journal of Human Genetics

English

Genotype and Phenotype in Patients With Noonan Syndrome and a RIT1 Mutation

Genetics in Medicine

English

Mutation-Positive and Mutation-Negative Patients With Cowden and Bannayan-Riley-Ruvalcaba Syndromes Associated With Distinct 10q Haplotypes

American Journal of Human Genetics

English

An Atypical Case of Noonan Syndrome With KRAS Mutation Diagnosed by Targeted Exome Sequencing

Annals of Pediatric Endocrinology and Metabolism

English

A First Case Report of Subependymoma in PTPN11 Mutation-Associated Noonan Syndrome

Case Reports in Neurological Medicine

English

The Phospholamban p.Arg14del Founder Mutation in Dutch Patients With Arrhythmogenic Cardiomyopathy

Netherlands Heart Journal

Cardiovascular Medicine

English

Response to Growth Hormone Therapy in Children With Noonan Syndrome: Correlation With or Without PTPN11 Gene Mutation

Hormone Research in Paediatrics

English

The Profile of Lung Adenocarcinoma Patients With Positive EGFR Mutation

Green Medical Journal

English

Neurodevelopmental Stimulation of a Child With a Noonan Syndrome With a Non-Frequent Mutation in RAF1 Gene — Case Report

The Journal of Neurological and Neurosurgical Nursing

English