- <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)
- ABCC6 as a target in pseudoxanthoma elasticum
- ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release
- Carotid rete mirabile and pseudoxanthoma elasticum: an accidental association?
- Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in <em>ENPP1</em> Gene
- Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene
- Clinical follow up of a girl with "mental retardation with pterygia, shortness and distinct facial appearance" (Haspeslagh syndrome)
- Mental retardation with pterygia, shortness and distinct facial appearance. A new MCA/MR syndrome
- Mental retardation with pterygia, shortness and distinct facial appearance. Confirmation of a new MCA/MR syndrome
- Multiple pterygium syndrome