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Zugriff
Einrichtung
Medientyp
- Text 9
Karte
Erscheinungsjahr
Autor/in
- Denecke, Jonas
- Hempel, Maja
- Johannsen, Jessika 5
- Bierhals, Tatjana 4
- Kloth, Katja 3
- alle zeigen
Sprache
- Englisch 9
9 Einträge gefunden
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The natural history of Canavan disease: 23 new cases and comparison with patients from literature
- Bley, Annette
- Denecke, Jonas
- Kohlschütter, Alfried
- Schön, Gerhard
- Hischke, Sandra
- Guder, Philipp
- Bierhals, Tatjana
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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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Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder
- Harms, Frederike L
- Kloth, Katja
- Bley, Annette
- Denecke, Jonas
- Santer, René
- Lessel, Davor
- Hempel, Maja
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Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1
- Said, Edith
- Chong, Jessica X
- Hempel, Maja
- Denecke, Jonas
- Soler, Paul
- Strom, Tim
- Nickerson, Deborah A
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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 -
Phenotypic and molecular insights into CASK-related disorders in males
- Moog, Ute
- Bierhals, Tatjana
- Brand, Kristina
- Bautsch, Jan
- Biskup, Saskia
- Brune, Thomas
- Denecke, Jonas
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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