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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

V. Garg

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2 papers indexed here

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Case report Open access Aug 2026

Familial Isolated Tetralogy of Fallot Associated With JAG1 Variant: Justifying Phenotype-Agnostic Genetic Workup for Critical Congenital Heart Disease.

Alagille syndrome (ALGS) is a rare, typically multisystem genetic disorder that impacts the liver, heart, eyes, vertebrae, and other areas of development. A clinical diagnosis can be established through defined clinical diagnostic criteria, while a molecular diagnosis requires the presence of a heterozygous pathogenic...

Ava Willoughby, Umamaheswaran Gurusamy, Blythe Moreland et al. · 0 citations
Open access Aug 2026

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers.

Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader-Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified. Four highly conserved genes in the region (NIPA1, NIPA2, CYFIP1...

M. Wright, Maria B Padua, Lindsey R Helvaty et al. · 0 citations

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