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Publications by Erich Bernd Ringelstein

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

Annals of Clinical and Translational Neurology

English

Related publications

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

Seizure : the journal of the British Epilepsy Association

English

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome With Intellectual Disability and Developmental Delay

American Journal of Human Genetics

English

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

American Journal of Human Genetics

English

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

Current Opinion in Genetics and Development

Developmental Biology

English

Expanding the Phenotypic Spectrum ofECEL1-related Congenital Contracture Syndromes

Clinical Genetics

English

Causative and Common PHOX2B Variants Define a Broad Phenotypic Spectrum

Clinical Genetics

English

Spectrum of Gluten-Related Disorders: Consensus on New Nomenclature and Classification

English

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

Current Rheumatology Reports

English

De Novo Variants in Congenital Diaphragmatic Hernia Identify MYRF as a New Syndrome and Reveal Genetic Overlaps With Other Developmental Disorders

Molecular Biology

Cancer Research

English