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Last Updated: 03/06/2025

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Found 395 publications

VEXAS, Chediak-Higashi syndrome and Danon disease: myeloid cell endo-lysosomal pathway dysfunction as a common denominator?

VEXAS, Chediak-Higashi syndrome and Danon disease: myeloid cell endo-lysosomal pathway dysfunction as a common denominator?

Journal: Cellular & molecular biology letters
Published: December 07, 2024

Shadows in the forest: Uncovering unusual colouration records in mammals from the Ecuadorian Tropical Andes.

Shadows in the forest: Uncovering unusual colouration records in mammals from the Ecuadorian Tropical Andes.

Journal: Biodiversity data journal
Published: September 19, 2024

Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.

Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.

Journal: Journal of clinical immunology
Published: August 20, 2024

Long-term observation of a piebald patient showing pigmentation within leukoderma.

Long-term observation of a piebald patient showing pigmentation within leukoderma.

Journal: European journal of dermatology : EJD
Published: July 17, 2024

Sustained Repigmentation in Vitiligo and Leukodermas Using Melanocyte-Keratinocyte Transplantation: 7 Years of Data.

Sustained Repigmentation in Vitiligo and Leukodermas Using Melanocyte-Keratinocyte Transplantation: 7 Years of Data.

Journal: Clinical, cosmetic and investigational dermatology
Published: July 03, 2024

Griscelli syndrome: a diagnostic challenge of a rare disease: a case report.

Griscelli syndrome: a diagnostic challenge of a rare disease: a case report.

Journal: Annals of medicine and surgery (2012)
Published: June 23, 2024

Albinism and Primary Immunodeficiency in Infants: A Case Study of Griscelli Syndrome.

Albinism and Primary Immunodeficiency in Infants: A Case Study of Griscelli Syndrome.

Journal: Cureus
Published: June 11, 2024

Retraction: Piebaldism: A Brief Report and Review of the Literature.

Retraction: Piebaldism: A Brief Report and Review of the Literature.

Journal: Indian dermatology online journal
Published: June 07, 2024

Diagnostic guidelines for familial hemophagocytic lymphohistiocytosis revisited.

Diagnostic guidelines for familial hemophagocytic lymphohistiocytosis revisited.

Journal: Blood
Published: April 19, 2024

Griscelli syndrome: Erdheim-Chester disease-like local presentation progressing to accelerated phase.

Griscelli syndrome: Erdheim-Chester disease-like local presentation progressing to accelerated phase.

Journal: The Turkish journal of pediatrics
Published: April 06, 2024

Novel OBSL1 Variant in a Chinese Patient with 3M Syndrome: The c.458dupG Mutation May Be a Potential Hotspot Mutation in the Chinese Population

Novel OBSL1 Variant in a Chinese Patient with 3M Syndrome: The c.458dupG Mutation May Be a Potential Hotspot Mutation in the Chinese Population

Journal: Journal of clinical research in pediatric endocrinology
Published: February 26, 2024

Allogeneic stem cell transplant in primary hemophagocytic lymphohistiocytosis - a single-center experience.

Allogeneic stem cell transplant in primary hemophagocytic lymphohistiocytosis - a single-center experience.

Journal: Annals of hematology
Published: January 18, 2024
Showing 1-12 of 395

Last Updated: 03/06/2025