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You searched for: Author/Creator Thomas, Quentin

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2. Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb‐girdle muscular dystrophy‐18. Issue 5 (25th August 2021)

4. Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia. (23rd February 2023)

5. High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics. Issue 5 (5th March 2021)

6. Colitis‐induced colorectal cancer and intestinal epithelial estrogen receptor beta impact gut microbiota diversity. Issue 12 (11th January 2019)