Renee J Thompson
10PUBLICATIONS
77CO-AUTHORS
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Publications (10)
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|Mar 03, 2026
A muscular dystrophy associated with bi-allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies.Marc Pauper, Heike Kölbel, Iakowos Karakesisoglou
|Jan 07, 2026
A Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and Hyperphagia.Ozge Aksel Kilicarslan, Andrea Gangfuß, Andreas Hentschel
|Dec 30, 2025
Combined Histological and Proteomic Analysis Reveals Muscle Denervation in KMT5B-Related Neurodevelopmental Disorder: A Case Report.Ozge Aksel Kilicarslan, Andrea Gangfuß, Heike Kölbel
|Sep 25, 2025
Caregiver-child affective dynamics during preschool predict preadolescent suicidal thoughts and behaviors.Laura E Quiñones-Camacho, Kirsten E Gilbert, Laura Hennefield
|Apr 14, 2025
Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases.Alexa Derksen, Rachel Thompson, Madeeha Shaikh
|Sep 18, 2023
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.Kiran Polavarapu, Balaraju Sunitha, Ana Töpf
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Frequent Collaborators
7 joint publications
Hanns Lochmüller
3 joint publications
Andrea Gangfuß
3 joint publications
Rita Horvath
2 joint publications
Ivo Gut
2 joint publications
Sergi Beltran
2 joint publications
Peter A C 't Hoen
2 joint publications
Kiran Polavarapu
1 joint publications
Dorota M Badowska
1 joint publications
Libby Wood
1 joint publications
Tina Harmuth
