Consanguinity in a Turkish family with thrombocytopenia with absent radii (TAR) syndrome

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Characterization of familial short stature with or without skeletal dysplasia in a Pakistani cohort reveals founder mutations as well as novel variants.

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Geographic barrier contributed to the diversity of maternal and paternal lineages in New Guinea Island.

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Clinical and molecular spectrum of congenital disorders of glycosylation in 80 Egyptian patients.

Human genetics·2026

Annual average exposure to ambient air pollution, polygenic risk, and incidence of major chronic diseases: a large-scale prospective cohort study.

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Human genetics·2026

A case-control study on IL-8 gene polymorphisms and serum IL-8 levels in patients with age-related macular degeneration in India.

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Healthcare (Basel, Switzerland)·2026

Anxiety and Self-Care in Adolescents with Type 1 Diabetes.

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Related Experiment Videos

Consanguinity in a Turkish family with thrombocytopenia with absent radii (TAR) syndrome

Related Concept Videos

A phase I dose escalation study of the LRP5 antagonist BI 905681 in patients with advanced and metastatic solid tumors.

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Consanguinity in a Turkish family with thrombocytopenia with absent radii (TAR) syndrome

Abstract:

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