Isabelle De Bie

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

Zhiqing Zhu, Jianbo Yao, Timothy Johns et al. · Nature Genetics · 1998 · 618 citations

Biochemistry, Genetic Disorder, Natural Sciences +9

<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Konrad Platzer, Hongjie Yuan, Hannah M. Schutz et al. · Journal of Medical Genetics · 2017 · 249 citations · Full text

The genetic basis of DOORS syndrome: an exome-sequencing study

Philippe M. Campeau, Dalia Kasperavičiūtė, James T. Lu et al. · The Lancet Neurology · 2013 · 227 citations · Full text

The isoforms of proprotein convertase PC5 are sorted to different subcellular compartments.

Isabelle De Bie, M. Marcinkiewicz, Daniela Malide et al. · The Journal of Cell Biology · 1996 · 150 citations · Full text

Protein Secretion, Molecular Biology, Different Subcellular Compartments +17

RETIRED: No. 348-Joint SOGC-CCMG Guideline: Update on Prenatal Screening for Fetal Aneuploidy, Fetal Anomalies, and Adverse Pregnancy Outcomes

François Audibert, Isabelle De Bie, Jo-Ann Johnson et al. · Journal of Obstetrics and Gynaecology Canada · 2017 · 139 citations