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Published in Human molecular genetics (05.05.2023)
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Published in Journal of inherited metabolic disease (01.09.2024)
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Alternating cerebral edema and arterial dilations in Molybdenum cofactor deficiency type‐A
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Published in Journal of inherited metabolic disease (01.09.2024)
Published in Journal of inherited metabolic disease (01.09.2024)
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Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome
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Published in Journal of medical genetics (01.10.2024)
Published in Journal of medical genetics (01.10.2024)
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