Skip to main content
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.
Genotype-phenotype correlation at codon 1740 of SETD2.
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
Quality of life and psychological functioning of pediatric and young adult patients with Gaucher disease, type 1.
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.
Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers-Danlos syndrome clinic: A retrospective review.
Novel and lethal case of cardiac involvement in DNM1L mitochondrial encephalopathy.
Schimke immunoosseous dysplasia and management considerations for vascular risks.
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.
Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy.