Observations suggesting allelism of the achondroplasia and hypochondroplasia genes

The anatomy of the human genome: a neo-Vesalian basis for medicine in the 21st century.

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Cervical spine anomalies and tumors in Weaver syndrome.

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The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.

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Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis.

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Observations suggesting allelism of the achondroplasia and hypochondroplasia genes

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The anatomy of the human genome: a neo-Vesalian basis for medicine in the 21st century.

The sequence of the human genome.

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Cervical spine anomalies and tumors in Weaver syndrome.

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.

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Evaluating consistency and variation in mainstream germline cancer genetic and genomic testing.

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