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P. Y B Au
P. Y B Au
University of Calgary
Genetics
Chromosomal inversion
Biology
Frameshift mutation
Scoliosis
2
Papers
17
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Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies
2018
Case reports in endocrinology
N. B. Toppings
J. M. McMillan
P. Y B Au
O. Suchowersky
L. E. Donovan
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Citations (10)
Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome
2017
European Journal of Medical Genetics
P. Y B Au
L. Huang
Stephanie Broley
L. Gallagher
E. Creede
D. Lahey
S. Ordorica
K. Mina
Kym M. Boycott
Gareth Baynam
D. A. Dyment
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Citations (7)
1