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Last Updated: 01/07/2026
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Found 269 publications
Precision T cell correction platform for inborn errors of immunity.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: February 14, 2025
Precision T cell correction platform for Inborn Errors of Immunity.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: February 14, 2025
Anemia in patients with cartilage hair hypoplasia: a narrative review and recommendations.
Journal: Laboratory medicine
Published: September 25, 2024
Neonatal erythroderma in a patient with cartilage-hair hypoplasia: Identification of a novel RMRP mutation.
Journal: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
Published: September 23, 2024
RMRP variants inhibit the cell cycle checkpoints pathway in cartilage‑hair hypoplasia.
Journal: Molecular medicine reports
Published: September 12, 2024
Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia.
Journal: Journal of clinical immunology
Published: February 23, 2024
Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients.
Journal: Scientific reports
Published: February 19, 2024
Extensive and deep granulomatous ulcers as an atypical manifestation of cartilage-hair hypoplasia syndrome: A diagnostic and therapeutic challenge.
Journal: The Australasian journal of dermatology
Published: January 09, 2024
Prediction of LncRNA-protein Interactions Using Auto-Encoder, SE-ResNet Models and Transfer Learning.
Journal: MicroRNA (Shariqah, United Arab Emirates)
Published: December 04, 2023
RMRP-related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review.
Journal: American journal of medical genetics. Part A
Published: November 15, 2023
Altered oral microbiome, but normal human papilloma virus prevalence in cartilage-hair hypoplasia patients.
Journal: Orphanet journal of rare diseases
Published: October 22, 2023
Last Updated: 01/07/2026