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

Seizure : the journal of the British Epilepsy Association - United Kingdom
doi 10.1016/j.seizure.2019.03.010
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Elsevier BV

Related search

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

Annals of Clinical and Translational Neurology
NeuroscienceNeurology
2019English

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

Current Opinion in Genetics and Development
GeneticsDevelopmental Biology
2011English

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

Seizure : the journal of the British Epilepsy Association
MedicineNeurology
2019English

Causative and Common PHOX2B Variants Define a Broad Phenotypic Spectrum

Clinical Genetics
Genetics
2019English

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

Current Rheumatology Reports
Rheumatology
2011English

Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants

Frontiers in Neurology
Neurology
2019English

Expanding the Phenotypic Spectrum ofECEL1-related Congenital Contracture Syndromes

Clinical Genetics
Genetics
2013English

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

Biophysical Journal
Biophysics
2014English

Clinical Spectrum of STX1B-related Epileptic Disorders

Neurology
Neurology
2019English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy