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Patrick A. van Bunderen

Leiden University Medical Center

6

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233

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The Jumping SHOX Gene—Crossover in the Pseudoautosomal Region Resulting in Unusual Inheritance of Leri-Weill Dyschondrosteosis

2011 The Journal of Clinical Endocrinology and Metabolism
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Low penetrance of a SDHB mutation in a large Dutch paraganglioma family

2010 BMC Medical Genetics
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The first Dutch SDHB founder deletion in paraganglioma – pheochromocytoma patients

2009 BMC Medical Genetics
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Adult neuronal ceroid lipofuscinosis with palmitoyl‐protein thioesterase deficiency: First adult‐onset patients of a childhood disease

2001 Annals of Neurology
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Citations (109)