Helene Morel
Paris, France
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 15 publications
Genetic aspects of telomere biology disorders.
Journal: Seminars in hematology
Published: February 05, 2026
Late Cognitive or Mood Alterations With 'Status Cribrosum' and Diffuse White Matter Lesions: A New Cerebral Small Vessel Disease Phenotype Associated With Rare COL4A1 Variants Located Within Exon 23.
Journal: European journal of neurology
Published: January 22, 2026
Adult male patients with DKC1 mutations present early-onset pulmonary fibrosis and severe prognosis.
Adult male patients with DKC1 mutations present early-onset pulmonary fibrosis and severe prognosis.
Journal: ERJ open research
Published: March 31, 2025
ASSESSMENT OF RETINAL ARTERIOLAR TORTUOSITY IN PATIENTS WITH COL4A1 OR COL4A2 MUTATIONS.
Journal: Retina (Philadelphia, Pa.)
Published: October 15, 2024
Exome Sequencing of Fetuses With Intracranial Hemorrhage Unravels Novel Causative Genes and an Extreme Genetic Heterogeneity.
Journal: Prenatal diagnosis
Published: September 09, 2024
An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease.
Journal: JAMA network open
Published: April 17, 2024
Extension of the Clinicoradiologic Spectrum of Newly Described End-Truncating LAMB1 Variations.
Journal: Neurology. Genetics
Published: January 25, 2023
Unilateral Leukoencephalopathy Revealing Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.
Journal: Annals of neurology
Published: February 09, 2022
End-Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy.
Journal: Annals of neurology
Published: March 18, 2021
Last Updated: 09/26/2026