Publications
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Filters: Keyword is Pathology, Molecular [Clear All Filters]
Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins. Am J Med Genet A. 2017 ;173(9):2451-2455.
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Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. J Hum Genet. 2017 ;62(4):465-471.
. Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 ;18(7):678-85.
. Phenotypic expansion illuminates multilocus pathogenic variation. Genet Med. 2018 ;20(12):1528-1537.
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