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Zugriff
Einrichtung
Medientyp
- Text 8
Karte
Erscheinungsjahr
Autor/in
- Haack, Tobias B
- Hempel, Maja 4
- Johannsen, Jessika 3
- Alhaddad, Bader 2
- Denecke, Jonas 2
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Sprache
- Englisch 8
8 Einträge gefunden
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Multisystemic neurodegeneration caused by biallelic pentanucleotide expansions in RFC1
- Herrmann, Laura
- Gelderblom, Mathias
- Bester, Maxim
- Deininger, Natalie
- Schütze, Thorsten
- Hidding, Ute
- Gross, Caspar
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IRF2BPL mutation causes nigrostriatal degeneration presenting with dystonia, spasticity and keratoconus
2020 - Forschungsinformationssystem des UKE -
Exom-Sequenzierung bei Kindern:Ungeklärte Entwicklungsstörungen und neurologische Erkrankungen, Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness
- Mahler, Elisa A
- Johannsen, Jessika
- Tsiakas, Konstantinos
- Kloth, Katja
- Lüttgen, Sabine
- Mühlhausen, Chris
- Alhaddad, Bader
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Exome Sequencing is a Valuable Approach in Critically Ill Patients with Suspected Monogenic Disease: Diagnosis of X-linked Centronuclear Myopathy in Preterm Twins
2017 - Forschungsinformationssystem des UKE - frei zugänglich -
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder
- Wortmann, Saskia B
- Ziętkiewicz, Szymon
- Kousi, Maria
- Szklarczyk, Radek
- Haack, Tobias B
- Gersting, Søren W
- Muntau, Ania C
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De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment
- Hempel, Maja
- Cremer, Kirsten
- Ockeloen, Charlotte W
- Lichtenbelt, Klaske D
- Herkert, Johanna C
- Denecke, Jonas
- Haack, Tobias B