Discover open access scientific publications

Search, annotate, share and cite publications

Publications by P. Franceschini

Wolcott-Rallison Syndrome: Clinical, Genetic, and Functional Study of EIF2AK3 Mutations and Suggestion of Genetic Heterogeneity

Internal Medicine

English

Related publications

Wolcott-Rallison Syndrome With Novel EIF2AK3 Gene Mutation

JCRPE Journal of Clinical Research in Pediatric Endocrinology

English

Wolcott-Rallison Syndrome

Orphanet Journal of Rare Diseases

English

Clinical and Genetic Heterogeneity of Autism

English

Clinical and Genetic Heterogeneity of Hypochondroplasia.

Journal of Medical Genetics

English

CRISPR-Barcoding for Intratumor Genetic Heterogeneity Modeling and Functional Analysis of Oncogenic Driver Mutations

Molecular Biology

English

Clinical and Genetic Heterogeneity in Laminopathies

Biochemical Society Transactions

English

Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

American Journal of Human Genetics

English

Genetic Heterogeneity of the Testicular Feminization Syndrome

English

Noonan Syndrome: A Clinical and Genetic Study of 31 Patients

Revista do Hospital das Clínicas

English