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Weight for age charts for children with achondroplasia.

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Clinical, pathological and genetic features of women at high familial risk of breast cancer undergoing prophylactic mastectomy.

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Involvement of the humerus in two generations with spondyloepiphyseal dysplasia.

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Pediatric nephrology (Berlin, Germany)·1999

Medical complications of achondroplasia: a multicentre patient review.

Journal of medical genetics·1998

Extended survival in a new case of ter Haar syndrome: further delineation of the syndrome.

American journal of medical genetics·1997

Limb anomalies from evolutionary, developmental, and genetic perspectives.

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Female-specific alterations in insulin dynamics are associated with glucose tolerance in a Glut1DS mouse model.

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The uneven landscape of cognitive domains in 22q11.2 deletion syndrome: A large consortium study.

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Iranian journal of medical sciences·2026

Biliverdin reductase A deficiency reveals sex- and brain region-specific vulnerability to high-fat diet feeding.

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AJP reports·2026

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