Niels Tommerup
Professor, dr.med., Professor
Department of Cellular and Molecular Medicine
Blegdamsvej 3, Building: 22.4.28
2200 2200 København N
Medical Genetics Program
Blegdamsvej 3
2200 København N.
1 - 1 out of 1Page size: 10
- 2023
- Published
PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES)
Cossu, A., Santos, J. L., Galati, G., Nikanorova, M., Costa, P., Mang, Y., Silahtaroglu, Asli, Rubboli, Guido, Tommerup, Niels, Dalla Bernardina, B., Møller, R. S., Cantalupo, G. & Gardella, E., 2023, In: Neurological Sciences. 44, 6, p. 2173-2176 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 5189
Most downloads
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2610
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Dysfunction of the heteromeric KV7.3/KV7.5 potassium channel is associated with autism spectrum disorders
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
1875
downloads
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
1142
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Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)( p11.2q21.2) mutation among northern Europeans
Research output: Contribution to journal › Journal article › Research › peer-review
Published