Maria Kibæk

The role of <i><scp>SLC</scp>2A1</i> mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of <scp>GLUT</scp>1 deficiency syndrome

Jan Larsen, Katrine M. Johannesen, Jakob Ek et al. · Epilepsia · 2015 · 100 citations · Full text

Life Sciences, Genetics, Neurology +17

Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy

A‐M. Bisgaard, M. Kirchhoff, JE Nielsen et al. · Clinical Genetics · 2009 · 94 citations

Life Sciences, Genetics, Molecular Genetics +17

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

Adrián Palencia‐Campos, Phillip C. Aoto, Erik M.F. Machal et al. · The American Journal of Human Genetics · 2020 · 54 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A&gt;G mutation that causes exon skipping

P. P. Madsen, Maria Kibæk, Xavier Roca et al. · Human Genetics · 2005 · 37 citations

Life Sciences, Genetics, Molecular Genetics +13

Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration

Christina Fagerberg, Adrian Taylor, Felix Distelmaier et al. · Brain · 2019 · 37 citations · Full text

Life Sciences, Neurology, Neuroscience +17