Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 21 publications
Implementing a Genetic Counselor-Led Model for Hereditary Myeloid Malignancies: A Real-World Study.
Journal: Cancer medicine
Published: March 19, 2025
Iowa Newborn Screening Program Experience with Hemoglobinopathy Screening over the Last Two Decades and Its Increasing Global Relevance.
Journal: International journal of neonatal screening
Published: February 08, 2024
A Severe Reaction After Phototherapy in a Neonate With X-Linked Protoporphyria.
Journal: Pediatrics
Published: October 25, 2023
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Journal: medRxiv : the preprint server for health sciences
Published: July 28, 2023
CRISPR screen identifies CEBPB as contributor to dyskeratosis congenita fibroblast senescence via augmented inflammatory gene response.
Journal: G3 (Bethesda, Md.)
Published: July 06, 2023
TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis.
Journal: Genes
Published: August 24, 2022
Co-occurrence of VHL and SDHA Pathogenic Variants: A Case Report.
Journal: Frontiers in oncology
Published: April 21, 2022
Severe COVID-19 as a virus-independent immunothrombotic process.
Journal: The Lancet. Rheumatology
Published: March 02, 2022
Retinal ciliopathies through the lens of Bardet-Biedl Syndrome: Past, present and future.
Journal: Progress in retinal and eye research
Published: August 20, 2021
Anti-phospholipid syndrome and COVID-19 thrombosis: connecting the dots.
Journal: Rheumatology advances in practice
Published: November 04, 2020
Last Updated: 09/26/2026