Molecular Genetics and Prenatal Diagnosis
Author:
Publisher
Wiley
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/9781119676980.ch14
Reference463 articles.
1. Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank;Crawford K;J Med Genet,2019
2. BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder;Scott TM;Hum Mutat,2020
3. Phenotypic expansion of KMT2D‐related disorder: Beyond Kabuki syndrome;Baldridge D;Am J Med Genet A
4. A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4;Ranganath P;Eur J Hum Genet,2020
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