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「Am J Med Genet C Semin Med Genet[Journal]」の検索結果

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Family experiences and attitudes about receiving the diagnosis of sex chromosome aneuploidy in a child.

Human sex chromosome aneuploidies: The hypothalamic-pituitary-gonadal axis.

From cause to care: Can a triple approach to better population data improve the global outlook of congenital heart disease?

Genetic variants in rheumatic fever and rheumatic heart disease.

The state of congenital heart disease.

Genetic considerations for adults with congenital heart disease.

Congenital heart disease in school children in Lagos, Nigeria: Prevalence and the diagnostic gap.

22q11.2 deletion syndrome and congenital heart disease.

Development of the human heart.

The genetics of aortopathies: Hereditary thoracic aortic aneurysms and dissections.

Genetic screening for hypertrophic cardiomyopathy in large, asymptomatic military cohorts.

Congenital heart disease in low-and-middle-income countries: Focus on sub-Saharan Africa.

Comorbidity of congenital heart defects and holoprosencephaly is likely genetically driven and gene-specific.

Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.

Left-right patterning in congenital heart disease beyond heterotaxy.

Ethical considerations for cardiac surgical interventions in children with trisomy 13 and trisomy 18.

Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes.

Investigation of de novo variation in pediatric cardiomyopathy.

Other genomic disorders and congenital heart disease.

The genetics of isolated congenital heart disease.

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