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Publications by W.-M. Chan

Expanding the Phenotypic Spectrum ofECEL1-related Congenital Contracture Syndromes

Clinical Genetics

English

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Expanding the Phenotypic Spectrum in RDH12-associated Retinal Disease

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Congenital Myasthenic Syndromes

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KCNC1 ‐related Disorders: New De Novo Variants Expand the Phenotypic Spectrum

Annals of Clinical and Translational Neurology

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Congenital Myasthenic Syndromes

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Novel Variants and Phenotypes Widen the Phenotypic Spectrum of GABRG2-related Disorders

Seizure : the journal of the British Epilepsy Association

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Expanding the Phenotypic Spectrum of Succinyl-CoA Ligase Deficiency Through Functional Validation of a New SUCLG1 Variant

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Delineating the GRIN1 Phenotypic Spectrum

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Congenital Disorder of Glycosylation Type Ia (CDG-Ia): Phenotypic Spectrum of the R141h/F119l Genotype

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“Breath Holding Spells” in a Child With SCN8A-related Epilepsy: Expanding the Clinical Spectrum

Seizure : the journal of the British Epilepsy Association

English