Helen L Storr
19PUBLICATIONS
92CO-AUTHORS
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Publications (19)
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|Jan 16, 2026
International guideline on genetic testing of children with short stature.Andrew Dauber, Alexander A L Jorge, Ola Nilsson
|Dec 23, 2025
Silver-Russell syndrome secondary to rare (epi)genotypes exhibits phenotypic heterogeneity challenging clinical diagnosis.Uttara Kurup, David B N Lim, Avinaash V Maharaj
|Nov 01, 2025
Pathogenesis of Noonan Syndrome is Modulated by NOC2L, a Novel Interactor of LZTR1 Leading to Impaired P53 Signalling.Sumana Chatterjee, Miho Ishida, Débora R Bertola
|Sep 28, 2024
QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction.Avinaash V Maharaj, Miho Ishida, Anna Rybak
|Jun 18, 2024
Approach to the Patient With Suspected Silver-Russell Syndrome.Uttara Kurup, David B N Lim, Helena Palau
|Feb 09, 2024
Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence: Part 2, specific diseases.Márta Korbonits, Joanne C Blair, Anna Boguslawska
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Frequent Collaborators
8 joint publications
Avinaash V Maharaj
6 joint publications
Emily Cottrell
6 joint publications
Justin H Davies
6 joint publications
Martin O Savage
4 joint publications
Vivian Hwa
4 joint publications
Afiya Andrews
4 joint publications
Louise A Metherell
3 joint publications
Joseph Freer
3 joint publications
Katharina Schilbach
3 joint publications
Jack Williams
