Jean-luc L. Alessandri
University Of Reunion Island
Saint-pierre-les-bois, France
Saint-pierre-les-bois, France
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 41 publications
Abstracts of the 36th World Congress on Ultrasound in Obstetrics and Gynecology, 4-7 September 2026, London, UK.
Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Published: July 06, 2026
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.
Journal: European journal of human genetics : EJHG
Published: September 19, 2025
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.
Journal: Journal of medical genetics
Published: March 14, 2025
Rare features in Feingold syndrome type 1.
Journal: European journal of medical genetics
Published: November 19, 2024
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Journal: Nature genetics
Published: October 02, 2024
Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS.
Journal: Journal of medical genetics
Published: August 22, 2024
First Description of a Large Clinical Series of Fetal Alcohol Spectrum Disorders Children and Adolescents in Reunion Island, France.
Journal: Children (Basel, Switzerland)
Published: July 12, 2024
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.
Journal: Journal of medical genetics
Published: April 02, 2024
Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy).
Journal: European journal of medical genetics
Published: November 20, 2023
Exploring the phenotypic spectrum and osteopenia mechanisms in Yunis-Varón syndrome.
Journal: Genetics in medicine open
Published: August 11, 2023
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Journal: Molecular genetics & genomic medicine
Published: August 03, 2023
Last Updated: 09/26/2026