Publications by authors named "B T Poll-The"

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Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency.
Femke C C Klouwer, Stefan D Roosendaal, Carla E M Hollak, Mirjam Langeveld, Bwee Tien Poll-The

Orphanet J Rare Dis· September 2024

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Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata.
Wedad Fallatah, Monica Schouten, Christine Yergeau, Erminia Di Pietro, Marc Engelen, Bwee Tien Poll-The

J Inherit Metab Dis· July 2021

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Postnatal Brain Growth Patterns in Pontocerebellar Hypoplasia.
Tessa van Dijk, Peter Barth, Frank Baas, Liesbeth Reneman, Bwee Tien Poll-The

Neuropediatrics· June 2021

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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Félixe Pelletier, Stefanie Perrier, Ferdy K Cayami, Amytice Mirchi, Stephan Saikali, Bwee Tien Poll-The

J Clin Endocrinol Metab· January 2021

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Correction to: Optical coherence tomography shows neuroretinal thinning in myelopathy of adrenoleukodystrophy.
Wouter J C van Ballegoij, Sander C Kuijpers, Irene C Huffnagel, Henry C Weinstein, Bwee Tien Poll-The

J Neurol· August 2020

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