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American Journal of Medical Genetics. Part A|December 13, 2022
A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screeningCathy D Vocke, Leah R Fleming, Anna M Piskorski, et al.
American Journal of Respiratory Cell and Molecular Biology|July 28, 2025
Choline and CCL22 Are Prognostic Blood Biomarkers for Hermansky-Pudlak Syndrome Pulmonary FibrosisMuhammad Arif, Abhishek Basu, Ben Long G Zuo, et al.
JCI Insight|January 25, 2019
One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1BDavid R Adams, Supriya Menezes, Ramon Jauregui, et al.
Frontiers in Immunology|May 2, 2017
Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome PatientsSamuel C C Chiang, Stephanie M Wood, Bianca Tesi, et al.
NPJ Genomic Medicine|February 10, 2023
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairmentMarie Morimoto, Vikas Bhambhani, Nour Gazzaz, et al.
American Journal of Human Genetics|March 3, 2019
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and NailsMolly E Kuo, Arjan F Theil, Anneke Kievit, et al.
Biorxiv : the Preprint Server for Biology|June 12, 2026
Early Pulmonary Fibrosis is Defined by Niche- and Cell-Specific Molecular ProgramsAlan Waich, Scott A Ochsner, Julian A Villalba, et al.
The New England Journal of Medicine|February 8, 2008
Phenotype and course of Hutchinson-Gilford progeria syndromeMelissa A Merideth, Leslie B Gordon, Sarah Clauss, et al.
Biorxiv : the Preprint Server for Biology|July 2, 2026
Alveolar niche disruption and aberrant epithelial reprogramming are early hallmarks of idiopathic pulmonary fibrosisAurelien Justet, Venerino Poletti, Cristian Coarfa, et al.
Blood|July 3, 2024
Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosisSamuel C C Chiang, Laura E Covill, Bianca Tesi, et al.
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