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Fatal hyperammonemia after renal transplant due to late-onset urea cycle deficiency: a case report.

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Experiences with risk estimates for carriers of chromosomal reciprocal translocations.

Clinical genetics·1992

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The incomplete, multiple ascertainment model: assumptions, applications, and alternative models.

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A reanalysis of the New York State prenatal diagnosis data on Down's syndrome and paternal age effects.

Human genetics·1987

Comments on methods and results in: Sherman et al., "Segregation analysis of balanced pericentric inversions in pedigree data".

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TTC14 dysfunction contributing to microcephaly and lissencephaly spectrum features through protein mislocalization and impaired RNA processing.

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Frontiers in psychology·2026

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Fatal hyperammonemia after renal transplant due to late-onset urea cycle deficiency: a case report.

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Comments on estimations of risks to translocation carriers.

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Comments on methods and results in: Sherman et al., "Segregation analysis of balanced pericentric inversions in pedigree data".

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