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Publications by Christine Francannet

Delineating the GRIN1 Phenotypic Spectrum

English

Whole Mitochondrial Genome Screening in Maternally Inherited Non-Syndromic Hearing Impairment Using a Microarray Resequencing Mitochondrial DNA Chip

European Journal of Human Genetics

English

Related publications

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

Seizure : the journal of the British Epilepsy Association

English

Castleman Disease: Delineating the Spectrum

British Journal of Haematology

English

Phenotypic and Genetic Structure of Traits Delineating Personality Disorder

Archives of General Psychiatry

English

Expanding the Phenotypic Spectrum in RDH12-associated Retinal Disease

Cold Spring Harbor molecular case studies

Molecular Medicine

English

Expanding the Phenotypic Spectrum ofECEL1-related Congenital Contracture Syndromes

Clinical Genetics

English

The Comprehensive Mutational and Phenotypic Spectrum of TUBB8 in Female Infertility

European Journal of Human Genetics

English

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

Annals of Clinical and Translational Neurology

English

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

Seizure : the journal of the British Epilepsy Association

English

Phenotypic Spectrum Caused by Transgenic Overexpression of Activated Akt in the Heart

Journal of Biological Chemistry

Molecular Biology

English