Isabelle Marey

Grenoble, France

Last Updated: 09/26/2026

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Found 36 publications

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

Journal: Neurology

Published: May 26, 2026

Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools.

Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools.

Journal: European journal of human genetics : EJHG

Published: February 02, 2026

Psychosis in a 47,XXX Adolescent: Clinical Management and Multidisciplinary Follow-up.

Psychosis in a 47,XXX Adolescent: Clinical Management and Multidisciplinary Follow-up.

Journal: Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology

Published: November 21, 2025

Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly.

Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 04, 2025

Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.

Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.

Journal: Genome medicine

Published: December 11, 2024

Early detection and treatment of obstructive sleep apnoea in infants with Down syndrome: a prospective, non-randomised, controlled, interventional study.

Early detection and treatment of obstructive sleep apnoea in infants with Down syndrome: a prospective, non-randomised, controlled, interventional study.

Journal: The Lancet regional health. Europe

Published: April 26, 2024

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Journal: American journal of human genetics

Published: March 18, 2024

Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.

Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.

Journal: Journal of medical genetics

Published: January 05, 2024

Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort.

Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort.

Journal: Orphanet journal of rare diseases

Published: October 06, 2023

Growth charts in DYRK1A syndrome.

Growth charts in DYRK1A syndrome.

Journal: American journal of medical genetics. Part A

Published: July 17, 2022

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.

Journal: American journal of medical genetics. Part A

Published: December 15, 2021

Hyperechoic Content of the Fetal Colon Is Not Always Cystinuria-Case Report.

Hyperechoic Content of the Fetal Colon Is Not Always Cystinuria-Case Report.

Journal: Frontiers in pediatrics

Published: November 25, 2021

Showing 1-12 of 36

Last Updated: 09/26/2026