Associated Papers
Genetic Analysis of Patients with Chronic Thromboembolic Pulmonary Hypertension (CTEPH): A Single-Center Observational Study.
Bereczky Z et al.
Genes, 2025
41300788 (PubMed )
Supplement: genes-16-01336-s001.zip › genes-3947445-supplementary.pdf
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
Segur-Bailach E et al.
Journal of Clinical Medicine, 2022
35330074 (PubMed )
Supplement: jcm-11-01749-s001.zip › Supl_Table_S2.pdf
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.
Michaud V et al.
Pigment Cell & Melanoma Research, 2017
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.
Stephen J et al.
Plos One, 2017
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome.
Huizing M et al.
Platelets, 2007
Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.
Wei ML
Pigment Cell Research, 2006
Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.
Huizing M et al.
Traffic (copenhagen, Denmark), 2004
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