Emma Bedoukian
0000-0003-3064-2488
4 papers found
Refreshing results…
Molecular Diagnostic Outcomes from 700 Cases
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome
Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations
Recommendations for the integration of genomics into clinical practice
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