Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Nathan Pulido

Sengers Syndrome: Six Novel AGK Mutations in Seven New Families and Review of the Phenotypic and Mutational Spectrum of 29 Patients

Orphanet Journal of Rare Diseases

English

Uso Oportuno De Inmunoglobulinas Intravenosas Y Riesgo De Alteraciones Coronarias en Pacientes Con Enfermedad De Kawasaki

Revista chilena de cardiología

English

Related publications

Molecular Analysis of HPRT Deficiencies: Six Novel Mutations and the Spectrum of Asian Mutations

Gout and Nucleic Acid Metabolism

English

The Comprehensive Mutational and Phenotypic Spectrum of TUBB8 in Female Infertility

European Journal of Human Genetics

English

The Mutational Spectrum of Lynch Syndrome in Cyprus

Multidisciplinary

English

PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity

American Journal of Human Genetics

English

Genetic Classification and Mutational Spectrum of More Than 600 Patients With a Zellweger Syndrome Spectrum Disorder

English

Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome That Expands the Phenotypic Spectrum of Condensinopathies

American Journal of Human Genetics

English

Kabuki Syndrome: A Chinese Case Series and Systematic Review of the Spectrum of Mutations

BMC Medical Genetics

English

The Clinical and Mutational Spectrum of Turkish Patients With Cystinosis

Clinical Journal of the American Society of Nephrology

Transplantation

Intensive Care Medicine

English

Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families

Multidisciplinary

English