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Register as Hehir-Kwa, J.Y.
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Mutations in ANTXR1 Cause GAPO Syndrome
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.
Homozygosity mapping in outbred families with mental retardation
High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population
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Royal Netherlands Academy of Arts and Sciences
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