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Frontiers in Pediatrics|August 5, 2021
The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population HealthAudrey C Woerner, Renata C Gallagher, Jerry Vockley, et al.
Cytogenetic and Genome Research|October 5, 2018
Partial 5p Deletion and Partial 5q Duplication in a Patient with Multiple Congenital Anomalies: A Two-Step Mechanism in Chromosomal Rearrangement Mediated by Non-Allelic Homologous RecombinationZhishuo Z Ou, Sally Kochmar, Svetlana A Yatsenko, et al.
Journal of Medical Genetics|December 23, 2024
TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomaliesJeshurun C Kalanithy, Enrico Mingardo, Jil D Stegmann, et al.
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