Ilse Kern

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Erica E. Davis, Qi Zhang, Qin Liu et al. · Nature Genetics · 2011 · 379 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

The two novel MHC class II transactivators RFX5 and CIITA both control expression of HLA-DM genes

Ilse Kern, Viktor Steimle, Claire‐Anne Siegrist et al. · International Immunology · 1995 · 109 citations

Life Sciences, Genetics, Immunology +10

Long-term Follow-up and Outcome of Phenylketonuria Patients on Sapropterin: A Retrospective Study

Stefanie Keil, Karen Anjema, Francjan J. van Spronsen et al. · PEDIATRICS · 2013 · 81 citations · Full text

Medicine, Endocrinology, Pharmacotherapy +13

Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency

Muhammad Ansar, Emmanuelle Ranza, Madhur Shetty et al. · Human Molecular Genetics · 2019 · 62 citations

Medicine, Ophthalmology, Pharmacotherapy +10

Plasma biomarkers for Alzheimer’s disease: a field-test in a memory clinic

Daniele Altomare, Sara Stampacchia, Federica Ribaldi et al. · Journal of Neurology Neurosurgery & Psychiatry · 2023 · 60 citations · Full text

Medicine, Clinical Sciences, Neurology +17