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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.
Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes.