List of works - Mark Williams - Paulina

List of works by Mark Williams

Application of Whole Genome Sequencing Technology in the Investigation of Genetic Causes of Fetal, Perinatal, and Early Infant Death

scientific article

DNA extraction from placental, fetal and neonatal tissue at autopsy: what organ to sample for DNA in the genomic era?

scientific article published on 18 October 2019

Expanding the phenotype of intellectual disability caused by HIVEP2 variants

scientific article published on 17 June 2019

Isolated Ventricular Noncompaction Cardiomyopathy Presenting as Fetal Hydrops at 24 Weeks Gestation

scientific article published on 25 January 2017

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

scientific article published on 24 September 2018

Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome

scientific article published on 24 June 2019

The placenta in Beckwith-Wiedemann syndrome: genotype-phenotype associations, excessive extravillous trophoblast and placental mesenchymal dysplasia ⬇️

scientific article published on October 1, 2012

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