- <em>In vitro</em> analysis of anti-HPA-1a dependent platelet phagocytosis and its inhibition using a new whole blood phagocytosis assay (WHOPPA)
- A Case of Neonatal Alloimmune Thrombocytopenia Following Maternal Pemphigoid Gestationis
- A case of neonatal thrombocytopenia due to maternal Helicobacter pylori-associated immune thrombocytopenia
- A Case of Non-purpuric Neonatal Alloimmune Thrombocytopenia Secondary to ABO Incompatibility
- A rare case of congenital amegakaryocytic thrombocytopenia associated with possible neonatal alloimmune thrombocytopenia and neutropenia by anti-HLA antibodies
Research
- 5-HT4 receptor agonists treatment reduces tau pathology and behavioral deficit in the PS19 mouse model of tauopathy
- A case of polyglucosan body myopathy caused by an RBCK1 gene variant and literature review
- A comprehensive analysis of the prognostic characteristics of microRNAs in breast cancer
- A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome
- A Novel PINK1 p.F385S Loss-of-Function Mutation in an Indian Family with Parkinson's Disease
- A case of pseudo-Zellweger syndrome with a possible bifunctional enzyme deficiency but detectable enzyme protein. Comparison of two cases of Zellweger syndrome
- A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome
- A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome
- A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects
- A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy)
- Autosomal dominant pseudoxanthoma elasticum
- Generalized pseudoxanthoma elasticum combined with vitamin K dependent clotting factors deficiency
- Genetics of hereditary cutaneous diseases associated with digestive tract involvement
- Heterogeneity of pseudoxanthoma elasticum: delineation of a new form?
- Light and electron microscopy of pseudoxanthoma elasticum
- A case of angioid streaks that produced choroidal neovascularization after the onset of unilateral acute retinopathy in pseudoxanthoma elasticum
- A Case of Pseudoxanthoma Elasticum with juvenile-onset hypertension
- ABCC6 deficiency and bone loss: A double benefit of etidronate for patient presenting with pseudoxanthoma elasticum?
- Acquired pseudoxanthoma elasticum-like syndrome and pyruvate kinase deficiency: a case of iron overload?
- Angioid Streaks