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Publications by John M. Schreiber

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

Seizure : the journal of the British Epilepsy Association

English

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

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Phenotypic Spectrum of the Tubulin-Related Disorders and Functional Implications of Disease-Causing Mutations

Current Opinion in Genetics and Development

Developmental Biology

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MEF2C-related Epilepsy: Delineating the Phenotypic Spectrum From a Novel Mutation and Literature Review

Seizure : the journal of the British Epilepsy Association

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Causative and Common PHOX2B Variants Define a Broad Phenotypic Spectrum

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Update on the Phenotypic Spectrum of Lesch-Nyhan Disease and Its Attenuated Variants

Current Rheumatology Reports

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Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants

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Expanding the Phenotypic Spectrum ofECEL1-related Congenital Contracture Syndromes

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Mutational Robustness Accelerates the Origin of Novel RNA Phenotypes Through Phenotypic Plasticity

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Clinical Spectrum of STX1B-related Epileptic Disorders

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