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List of works by Leah Dowsett

Cornelia de Lange syndrome in diverse populations

scientific article published on 06 January 2019

Genotype-phenotype correlation at codon 1740 of SETD2

scientific article published on 24 July 2020

Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy

scientific article published on 17 June 2019

Rubinstein-Taybi syndrome in diverse populations

scientific article published on 27 September 2020

Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency.

scientific article published on 28 April 2017

Williams–Beuren syndrome in diverse populations

scientific article published in May 2018

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