Facetten
Zugriff
Einrichtung
Medientyp
- Text 5
Karte
Erscheinungsjahr
Autor/in
- Denecke, Jonas
- Hempel, Maja
- Johannsen, Jessika
- Bierhals, Tatjana 2
- Haack, Tobias B 2
- alle zeigen
Sprache
- Englisch 5
5 Einträge gefunden
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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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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 -
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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