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Last Updated: 10/31/2025

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Found 1713 publications

Hermansky-Pudlak Syndrome.

Hermansky-Pudlak Syndrome.

Journal: Clinics in chest medicine
Published: October 19, 2025

Alterations of Photoreceptor Synaptic Ribbons in the Retina of a Human Patient With Oculocutaneous Albinism Type 1 (OCA1).

Alterations of Photoreceptor Synaptic Ribbons in the Retina of a Human Patient With Oculocutaneous Albinism Type 1 (OCA1).

Journal: Investigative ophthalmology & visual science
Published: October 08, 2025

TYROSINASE-Deficient Human Retinal Pigment Epithelium Exhibits Melanosome Maturation Defects.

TYROSINASE-Deficient Human Retinal Pigment Epithelium Exhibits Melanosome Maturation Defects.

Journal: Investigative ophthalmology & visual science
Published: October 01, 2025

Spontaneous mutant in threespine stickleback connects endosome trafficking disorders and inflammatory bowel diseases via changes in the gut microbiome.

Spontaneous mutant in threespine stickleback connects endosome trafficking disorders and inflammatory bowel diseases via changes in the gut microbiome.

Journal: bioRxiv : the preprint server for biology
Published: September 26, 2025

Correction to "A Case of Metastasis of Giant Basal Cell Carcinoma in Oculocutaneous Albinism".

Correction to "A Case of Metastasis of Giant Basal Cell Carcinoma in Oculocutaneous Albinism".

Journal: The Journal of dermatology
Published: September 09, 2025

Clinical characteristics and prognostic factors of Hermansky-Pudlak syndrome with or without pulmonary fibrosis: a systematic review.

Clinical characteristics and prognostic factors of Hermansky-Pudlak syndrome with or without pulmonary fibrosis: a systematic review.

Journal: Therapeutic advances in respiratory disease
Published: September 08, 2025

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

Journal: medRxiv : the preprint server for health sciences
Published: August 12, 2025

Hermansky-Pudlak Syndrome Pulmonary Fibrosis: Monogenic Disorder, Multi-omics Discovery.

Hermansky-Pudlak Syndrome Pulmonary Fibrosis: Monogenic Disorder, Multi-omics Discovery.

Journal: American journal of respiratory cell and molecular biology
Published: July 30, 2025

Oculocutaneous albinism in a patient with an OCA2 variant: molecular and clinical insights.

Oculocutaneous albinism in a patient with an OCA2 variant: molecular and clinical insights.

Journal: Asian biomedicine : research, reviews and news
Published: July 30, 2025

X-Linked Ocular Albinism.

X-Linked Ocular Albinism.

Journal: Advances in experimental medicine and biology
Published: July 30, 2025

Choline and CCL22 Are Prognostic Blood Biomarkers for Hermansky-Pudlak Syndrome Pulmonary Fibrosis.

Choline and CCL22 Are Prognostic Blood Biomarkers for Hermansky-Pudlak Syndrome Pulmonary Fibrosis.

Journal: American journal of respiratory cell and molecular biology
Published: July 28, 2025

Line-Field Confocal Optical Coherence Tomography (LC-OCT) of Amelanotic Melanoma in a Patient With Oculocutaneous Albinism.

Line-Field Confocal Optical Coherence Tomography (LC-OCT) of Amelanotic Melanoma in a Patient With Oculocutaneous Albinism.

Journal: International journal of dermatology
Published: July 11, 2025
Showing 1-12 of 1,713

Last Updated: 10/31/2025