Elisa A. Mahler
Paris, 75015, France
Last Updated: 09/26/2026
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Found 10 publications
THRB splice site variants lead to exon 4 skipping and TRβ1 gain-of-function syndrome.
Journal: medRxiv : the preprint server for health sciences
Published: May 04, 2026
Congenital aniridia with microphthalmia and cataract as unusual ocular features in RAB3GAP1-related Warburg micro syndrome.
Journal: Journal francais d'ophtalmologie
Published: February 03, 2026
Mutation of the Thyroid Hormone Receptor Beta Gene (THRB) Causes Vitelliform Macular Dystrophy with High Intrafamilial Variability.
Journal: Genes
Published: September 18, 2025
Ophthalmological care of patients with Bardet-Biedl syndrome
Journal: Die Ophthalmologie
Published: April 12, 2025
Phenotypic characterization of a female patient with retinitis pigmentosa caused by a homozygous X-linked RPGR ORF15 mutation.
Journal: American journal of ophthalmology case reports
Published: July 02, 2024
Injection of botulinum toxin in a neonate with congenital entropion and corneal ulcer
Journal: Die Ophthalmologie
Published: March 12, 2024
Diffuse malignant peritoneal mesothelioma (DMPM) - a rare diagnosis
Journal: Zeitschrift fur Gastroenterologie
Published: February 13, 2020
Author Comment on: Álvarez B, Montero Á, Aramburu F, Calvo E, Ángel de la Casa M, Valero J, et al. Radiotherapy for ostheoarticular degenerative disorders: When nothing else works. Osteoarthritis and Cartilage Open. 2019:100016.
Journal: Osteoarthritis and cartilage open
Published: February 04, 2020
The efficacy and safety of low-dose radiotherapy on pain and functioning in patients with osteoarthritis: a systematic review.
Journal: Rheumatology international
Published: April 29, 2015
Showing 1-10 of 10
Last Updated: 09/26/2026