Alice Masurel

Amiens, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 31 publications

Mycoplasma encephalitis, incomplete Kawasaki disease and MERS, a new association? Short communication.

Mycoplasma encephalitis, incomplete Kawasaki disease and MERS, a new association? Short communication.

Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Published: July 23, 2025

Hemiplegic migraine and MRI sequences: The keys to diagnose a stroke mimic?

Hemiplegic migraine and MRI sequences: The keys to diagnose a stroke mimic?

Journal: Revue neurologique

Published: April 08, 2025

The Two Faces of Pediatric SCA2.

The Two Faces of Pediatric SCA2.

Journal: European journal of neurology

Published: March 05, 2025

Prenatal Diagnosis of Proteus Syndrome: About a Case.

Prenatal Diagnosis of Proteus Syndrome: About a Case.

Journal: American journal of medical genetics. Part A

Published: June 11, 2024

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.

Journal: Molecular genetics and metabolism reports

Published: July 29, 2021

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.

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

Published: January 03, 2021

Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study.

Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study.

Journal: European journal of medical genetics

Published: September 03, 2020

Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study.

Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study.

Journal: EBioMedicine

Published: November 30, 2019

Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports.

Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports.

Journal: Frontiers in pediatrics

Published: October 09, 2019

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

Journal: Journal of medical genetics

Published: July 16, 2019

Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome.

Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome.

Journal: European journal of medical genetics

Published: June 13, 2019

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.

Journal: European journal of human genetics : EJHG

Published: January 29, 2019

Showing 1-12 of 31

Last Updated: 09/26/2026