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Medientyp
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Erscheinungsjahr
Autor/in
- Hempel, Maja
- Bierhals, Tatjana 3
- Johannsen, Jessika 2
- Kloth, Katja 2
- Andersen, Peter M 1
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Sprache
- Englisch 7
7 Einträge gefunden
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16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome
- Kloth, Katja
- Renner, Sina
- Burmester, Gunter
- Steinemann, Doris
- Pabst, Brigitte
- Lorenz, Birgit
- Simon, Ronald
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Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis
- Burkhalter, Martin D
- Sridhar, Arthi
- Sampaio, Pedro
- Jacinto, Raquel
- Burczyk, Martina S
- Donow, Cornelia
- Angenendt, Max
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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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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
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Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects
- Filatova, Alina
- Rey, Linda K
- Lechler, Marion B
- Schaper, Jörg
- Hempel, Maja
- Posmyk, Renata
- Szczaluba, Krzysztof
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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
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