Helen Puusepp‐Benazzouz

A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability

Katrin Õunap, Helen Puusepp‐Benazzouz, Maire Peters et al. · European Journal of Medical Genetics · 2012 · 41 citations

Genome Instability, Mendelian Disorder, C Mutation +10

Maternally and paternally inherited deletion of 7q31 involving the <i>FOXP2</i> gene in two families

Olga Žilina, Tiia Reimand, Polina Zjablovskaja et al. · American Journal of Medical Genetics Part A · 2011 · 36 citations · Full text

Gene Deletion Data, Please Note, Developmental Biology +14

Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly

Sarah Grotto, Valérie Drouin‐Garraud, Katrin Õunap et al. · European Journal of Medical Genetics · 2014 · 21 citations · Full text

Brwd3 Mutation, Mendelian Disorder, Genetic Disorder +9

Factors contributing to neonatal readmissions to a level 4 hospital within 28 days after birth

Olivia Jarrett, Daeun Gim, Helen Puusepp‐Benazzouz et al. · Journal of Paediatrics and Child Health · 2022 · 10 citations · Full text