James Blackburn

6PUBLICATIONS
3CO-AUTHORS
Immunogenetics (incl. genetic immunology)Molecular imaging (incl. electron microscopy and neutron diffraction)Adolescent healthNeurology and neuromuscular diseasesInfant and child health
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Publications (6)

|Mar 31, 2025
A Novel De Novo Nonsense Pathogenic Variant in IGSF1 Resulting in Central Hypothyroidism and Transient GH Deficiency.

James Blackburn, Banupriya Sivasanker, Shahida Ahmed

|Jan 14, 2025
Klinefelter Syndrome: A Review.

James Blackburn, Anand Ramakrishnan, Catherine Graham

|Sep 30, 2022
Heterozygous CDC73 mutation causing hyperparathyroidism in children and adolescents: a report of 2 cases.

James Blackburn, Ian Mulvey, Ruchi Nadar

|May 22, 2020
Isolated premature menarche in two siblings with Neurofibromatosis type 1.

James Blackburn, Mohammed Didi, Shivaram Avula

|Oct 11, 2019
Short stature: making a crystal clear diagnosis.

James Blackburn, Renuka Ramakrishnan

|Nov 13, 2018
A Rare Case of Heterozygous Gain of Function Thyrotropin Receptor Mutation Associated with Development of Thyroid Follicular Carcinoma.

James Blackburn, Dinesh Giri, Barbara Ciolka

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Frequent Collaborators

1 joint publications

Senthil Senniappan

1 joint publications

Marta Korbonits

1 joint publications

Evelien Gevers