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Einrichtung
Medientyp
- Text 7
Karte
Erscheinungsjahr
Autor/in
- Bierhals, Tatjana
- Johannsen, Jessika
- Hempel, Maja 5
- Kloth, Katja 3
- Denecke, Jonas 2
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Sprache
- Englisch 7
7 Einträge gefunden
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Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia
- Schob, Claudia
- Hempel, Maja
- Brozkova, Dana Safka
- Jiang, Huafang
- Kim, Soo Yeon
- Batzir, Nurit Assia
- Orenstein, Naama
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Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort
- van der Ven, Amelie T
- Johannsen, Jessika
- Kortüm, Fanny
- Wagner, Matias
- Tsiakas, Konstantinos
- Bierhals, Tatjana
- Lessel, Davor
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A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions
- Coste de Bagneaux, Pierre
- von Elsner, Leonie
- Bierhals, Tatjana
- Campiglio, Marta
- Johannsen, Jessika
- Obermair, Gerald J
- Hempel, Maja
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Phenotype in an Infant with SOD1 Homozygous Truncating Mutation
- Andersen, Peter M
- Nordström, Ulrika
- Tsiakas, Konstantinos
- Johannsen, Jessika
- Volk, Alexander E
- Bierhals, Tatjana
- Zetterström, Per
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Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype
- Kloth, Katja
- Bierhals, Tatjana
- Johannsen, Jessika
- Harms, Frederike L
- Juusola, Jane
- Johnson, Mark C
- Grange, Dorothy K
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Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant
- Johannsen, Jessika
- Bierhals, Tatjana
- Deindl, Philipp
- Hecher, Laura
- Hermann, Katharina
- Hempel, Maja
- Kloth, Katja