A novel variant in <i>SIAH1</i> associated with autosomal dominant Buratti-Harel syndrome. [PDF]
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Nabais Sá-de Vries Syndrome Type 1 in a Mexican Girl: A Case Report. [PDF]
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A novel homozygous splicing variant in FRA10AC1: further delineation of the phenotype. [PDF]
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Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome. [PDF]
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Reply to the Letter to the Editor: "Comment on 'Delayed-Onset Type 1 Kounis Syndrome Caused Ventricular Fibrillation: A Case Report'". [PDF]
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Blepharophimosis syndrome: An atypical case [PDF]
Eye, 1994 S Sandramouli, S M Betharia
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A Systematic Review Illustrates the Expanding Clinical and Molecular Landscape of Helsmoortel-Van der Aa Syndrome. [PDF]
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Clinical heterogeneity of polish patients with KAT6B-related disorder. [PDF]
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