Facetten
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Einrichtung
Medientyp
Karte
Erscheinungsjahr
Autor/in
- Bierhals, Tatjana
- Kutsche, Kerstin
- Hempel, Maja 2
- Johannsen, Jessika 2
- Korenke, Georg Christoph 2
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Sprache
- Englisch 7
7 Einträge gefunden
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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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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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de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation
2019 - Forschungsinformationssystem des UKE - frei zugänglich -
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Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations
2013 - Forschungsinformationssystem des UKE -
Expanding the phenotype associated with 17q12 duplication: case report and review of the literature
2013 - Forschungsinformationssystem des UKE -
Phenotypic spectrum associated with CASK loss-of-function mutations.
- Moog, Ute
- Kutsche, Kerstin
- Kortüm, Fanny
- Chilian, Bettina
- Bierhals, Tatjana
- Apeshiotis, Neophytos
- Balg, Stefanie