Judith Melki
Paris, France
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 48 publications
EXTL3 dysfunction identified as a driver of aberrant bone development in severe familial ankylosing spondylitis.
Journal: Annals of the rheumatic diseases
Published: March 31, 2026
Genetic Bases of Arthrogryposis Multiplex Congenita.
Journal: Annual review of genomics and human genetics
Published: February 23, 2026
Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort.
Journal: Orphanet journal of rare diseases
Published: October 06, 2023
DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy.
Journal: Clinical genetics
Published: April 03, 2023
Biallelic NPR1 loss of function variants are responsible for neonatal systemic hypertension.
Journal: Journal of medical genetics
Published: January 20, 2023
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Journal: Brain : a journal of neurology
Published: August 26, 2022
State of the art of antenatal diagnosis and management of vein of Galen aneurysmal malformations.
Journal: Prenatal diagnosis
Published: February 26, 2022
Arteriovenous Cerebral High Flow Shunts in Children: From Genotype to Phenotype.
Journal: Frontiers in pediatrics
Published: February 08, 2022
Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B.
Journal: Neuromuscular disorders : NMD
Published: December 06, 2021
Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita.
Journal: American journal of medical genetics. Part A
Published: October 14, 2021
Postnatal Diagnostic Workup in Children With Arthrogryposis: A Series of 82 Patients.
Journal: Journal of child neurology
Published: August 19, 2021
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
Journal: Journal of medical genetics
Published: November 16, 2020
Last Updated: 09/26/2026