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Autor/in
- Denecke, Jonas
- Johannsen, Jessika 2
- Weiss, Deike 2
- Altmüller, Janine 1
- Ammer, Luise Sophie 1
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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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Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?
- Ammer, Luise Sophie
- Pohl, Sandra
- Breyer, Sandra Rafaela
- Aries, Charlotte
- Denecke, Jonas
- Perez, Anna
- Petzoldt, Martin
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MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency
- Knapp, Karen M
- Jenkins, Danielle E
- Sullivan, Rosie
- Harms, Frederike L
- von Elsner, Leonie
- Ockeloen, Charlotte W
- de Munnik, Sonja
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Development of the "Hamburg Best Practice Guidelines for ICV-Enzyme Replacement therapy (ERT) in CLN2 Disease" Based on 6 Years Treatment Experience in 48 Patients
- Schwering, Christoph
- Kammler, Gertrud
- Wibbeler, Eva
- Christner, Martin
- Knobloch, Johannes K-M
- Nickel, Miriam
- Denecke, Jonas
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ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants
- Kloth, Katja
- Lozic, Bernarda
- Tagoe, Julia
- Hoffer, Mariëtte J V
- Van der Ven, Amelie
- Thiele, Holger
- Altmüller, Janine
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Hypoglykämie+Septum pellucidum-Agenesie = septo-optische Dysplasie!
- Fröschle, Glenn M C
- Ebenebe, Chinedu U
- Herrmann, Jochen
- Denecke, Jonas
- Singer, Dominique
- Dabek, Martin
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Evaluation of putative CSF biomarkers in paediatric spinal muscular atrophy (SMA) patients before and during treatment with nusinersen
2021 - Forschungsinformationssystem des UKE - frei zugänglich -
CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders
- El Ghaleb, Yousra
- Schneeberger, Pauline E
- Fernández-Quintero, Monica L
- Geisler, Stefanie M
- Pelizzari, Simone
- Polstra, Abeltje M
- van Hagen, Johanna M