Publications
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Filters: Keyword is Genetic Heterogeneity and Author is Jhangiani, Shalini [Clear All Filters]
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Am J Med Genet A. 2021 ;185(12):3593-3600.
. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med. 2019 ;21(4):798-812.
. Comprehensive genomic analysis of patients with disorders of cerebral cortical development. Eur J Hum Genet. 2018 ;26(8):1121-1131.
. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2018 ;102(1):27-43.
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Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy. Mol Psychiatry. 2015 ;20(2):176-82.
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