Prominent Tendon Xanthomas and Abdominal Aortic Aneurysm Associated with Cerebrotendinous Xanthomatosis Identified Using Whole Exome Sequencing.

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The High-Throughput Analyses Era: Are We Ready for the Data Struggle?

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Prominent Tendon Xanthomas and Abdominal Aortic Aneurysm Associated with Cerebrotendinous Xanthomatosis Identified Using Whole Exome Sequencing.

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Prominent Tendon Xanthomas and ...... Using Whole Exome Sequencing.

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Prominent Tendon Xanthomas and ...... Using Whole Exome Sequencing.

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Prominent Tendon Xanthomas and ...... Using Whole Exome Sequencing.

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Prominent Tendon Xanthomas and ...... Using Whole Exome Sequencing.

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Prominent Tendon Xanthomas and ...... Using Whole Exome Sequencing.

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Prominent Tendon Xanthomas and ...... Using Whole Exome Sequencing.

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Prominent Tendon Xanthomas and ...... Using Whole Exome Sequencing.

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Daria Pozharitckaia

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Hayato Tada

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Masa-Aki Kawashiri

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Syota Inaba

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P2860

Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management

Analysis of protein-coding genetic variation in 60,706 humans

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Mechanisms of disease: genetic causes of familial hypercholesterolemia.

Genetic identification of familial hypercholesterolemia within a single U.S. health care system.

Prevalence of Familial Hypercholesterolemia in the 1999 to 2012 United States National Health and Nutrition Examination Surveys (NHANES).

Difference in the risk factors for coronary, renal and other peripheral arteriosclerosis in heterozygous familial hypercholesterolemia.

Altered metabolism of low-density lipoprotein and very-low-density lipoprotein remnant in autosomal recessive hypercholesterolemia: results from stable isotope kinetic study in vivo.

Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series.

Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217

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scholarly article

case report

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10.2169/INTERNALMEDICINE.9687-17

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Prominent Tendon Xanthomas and Abdominal Aortic Aneurysm Associated with Cerebrotendinous Xanthomatosis Identified Using Whole Exome Sequencing.

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Prominent Tendon Xanthomas and Abdominal Aortic Aneurysm Associated with Cerebrotendinous Xanthomatosis Identified Using Whole Exome Sequencing.

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