scholarly article | Q13442814 |
P356 | DOI | 10.1002/PBC.22357 |
P698 | PubMed publication ID | 19953648 |
P50 | author | Bengt Fadeel | Q27990117 |
Kjell Hultenby | Q28468914 | ||
Yenan Bryceson | Q40448764 | ||
Henrik Hasle | Q40506155 | ||
Magnus Nordenskjöld | Q44477270 | ||
Jan-Inge Henter | Q55294118 | ||
P2093 | author name string | Chengyun Zheng | |
Carsten Heilmann | |||
Hans-Gustaf Ljunggren | |||
Stephanie M Wood | |||
Marie Meeths | |||
Karin Beutel | |||
Eva Rudd | |||
Kim Ramme | |||
P433 | issue | 4 | |
P921 | main subject | Griscelli syndrome | Q3281274 |
Griscelli syndrome type 2 | Q5609615 | ||
P304 | page(s) | 563-572 | |
P577 | publication date | 2010-04-01 | |
P1433 | published in | Pediatric Blood & Cancer | Q15754342 |
P1476 | title | Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations | |
P478 | volume | 54 |
Q55506358 | A RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation. |
Q33919390 | An Indian boy with griscelli syndrome type 2: case report and review of literature |
Q47095589 | Approach to a Child with Primary Immunodeficiency Made Simple |
Q34365344 | Cerebellar involvement of Griscelli syndrome type 2 |
Q26824806 | Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism |
Q37812671 | Contemporary diagnostic methods for hemophagocytic lymphohistiocytic disorders |
Q47105896 | Effects of silencing Rab27a gene on biological characteristics and chemosensitivity of non-small cell lung cancer |
Q37944552 | Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity |
Q37719014 | Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning |
Q33747786 | Griscelli Syndrome Presented with Status Epilepticus and Hemophagocytic Lymphohistiocytosis |
Q38512251 | Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum. |
Q36771131 | Hemophagocytic Lymphohistiocytosis: Single-Center Series of 12 Cases from Saudi Arabia |
Q36386541 | Human NK cell lytic granules and regulation of their exocytosis |
Q37497535 | Human immunodeficiency syndromes affecting human natural killer cell cytolytic activity |
Q26823854 | Identifying novel spatiotemporal regulators of innate immunity |
Q34413845 | Integrin-mediated function of Rab GTPases in cancer progression |
Q38936540 | Molecular mechanisms regulating secretory organelles and endosomes in neutrophils and their implications for inflammation. |
Q50207928 | Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene |
Q49914611 | Non-neoplastic histiocytic and dendritic cell disorders in lymph nodes |
Q34069138 | Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2. |
Q38167633 | Ocular involvement in primary immunodeficiency diseases |
Q89776910 | Proliferation through activation: hemophagocytic lymphohistiocytosis in hematologic malignancy |
Q64041481 | Proteome Analysis of Human Neutrophil Granulocytes From Patients With Monogenic Disease Using Data-independent Acquisition |
Q27012658 | Regulation of vesicular trafficking and leukocyte function by Rab27 GTPases and their effectors |
Q36385688 | Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis |
Q47931407 | Weathering the storm: Improving therapeutic interventions for cytokine storm syndromes by targeting disease pathogenesis. |
Q84427179 | [Hereditary pigmentary disorders] |