Shamima Rahman

40PUBLICATIONS
143CO-AUTHORS
Medical virologyMedical mycologyGastroenterology and hepatologyPacific Peoples midwifery and paediatricsPharmacogenomics
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Publications (40)

|Jul 28, 2026
MSeqDR PMD-VR: An Expert-Curated Virtual Registry of 11,000 Mitochondrial Disease Cases Established Through Literature Mining and Generative AI Augmentation.

|Apr 18, 2026
Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements.

|Nov 15, 2025
Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients.

Erle Kristensen, Karin Naess, Martin Engvall

|Oct 25, 2025
Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care.

Anja Lee, Yngve Thomas Bliksrud, Michela Onali

|Aug 01, 2025
Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder in patients and cell line models.

Fangfang Zhang, Tatjana Dorn, Barbara Gnutti

|Feb 26, 2025
Rare disease gene association discovery in the 100,000 Genomes Project.

Valentina Cipriani, Letizia Vestito, Emma F Magavern

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Frequent Collaborators

4 joint publications

Nandaki Keshavan

3 joint publications

Rita Horvath

3 joint publications

Patrick F Chinnery

3 joint publications

Henry Houlden