Phenotypic variation of <i>TTC19</i>‐deficient mitochondrial complex III deficiency: A case report and literature review
2015 · American Journal of Medical Genetics Part A · 39 citations
https://doi.org/10.1002/ajmg.a.36968
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Jillian Nicholl
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Jillian Nicholl is an academic researcher from South Australia Pathology. The author has contributed to research in topics: Genomic variations and chromosomal abnormalities & Genomics and Rare Diseases & Genetics and Neurodevelopmental Disorders. The author has an h-index of 24, co-authored 38 publications.
Papers by this author
worksAuthor Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
2023 · Nature Medicine · 0 citations
https://doi.org/10.1038/s41591-023-02487-1
XY sex chromosome complement on microarray – technical error or incidental finding?
2025 · Pathology · 0 citations
https://doi.org/10.1016/j.pathol.2024.12.087
Clinical and genetic spectrum of Fanconi anemia in Australia and New Zealand
2025 · Genetics in Medicine Open · 0 citations
https://doi.org/10.1016/j.gimo.2025.103447
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