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List of works by Nadège Calmels

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

scientific article

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

scientific article published on 6 July 2017

Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome

scientific article published on 8 February 2018

Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome

scientific article published on 23 March 2018

Homozygous SMN1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis

scientific article published on 07 June 2012

Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen

scientific article

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.

scientific article published on 9 November 2016

Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome

scientific article published on 20 October 2014

Renal disease in Cockayne syndrome

scientific article published on 07 January 2019

Teaching NeuroImages: The syndrome of cutaneous photosensitivity, growth failure, and basal ganglia calcification

scientific article published on 01 August 2016

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

scientific article

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