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- Denecke, Jonas
- Johannsen, Jessika 19
- Hempel, Maja 9
- Wiegand-Grefe, Silke 8
- Grolle, Benjamin 6
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41 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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A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay
- Johannsen, Jessika
- Kortüm, Fanny
- Rosenberger, Georg
- Bokelmann, Kristin
- Schirmer, Markus A
- Denecke, Jonas
- Santer, René
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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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Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy
- Rolvien, Tim
- Butscheidt, Sebastian
- Jeschke, Anke
- Neu, Axel
- Denecke, Jonas
- Kubisch, Christian
- Meisler, Miriam H
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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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The Need for Psychosocial Support in Parents of Chronically Ill Children, Psychosozialer Unterstützungsbedarf von Eltern mit schwer chronisch somatisch erkrankten Kindern
- Morgenstern, Lydia
- Wagner, Mira
- Denecke, Jonas
- Grolle, Benjamin
- Johannsen, Jessika
- Wegscheider, Karl
- Wiegand-Grefe, Silke
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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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Management Strategies for CLN2 Disease
- Williams, Ruth E
- Adams, Heather R
- Blohm, Martin
- Cohen-Pfeffer, Jessica L
- de Los Reyes, Emily
- Denecke, Jonas
- Drago, Kristen
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Lessons learned from additional research analyses of unsolved clinical exome cases
- Eldomery, Mohammad K
- Coban-Akdemir, Zeynep
- Harel, Tamar
- Rosenfeld, Jill A
- Gambin, Tomasz
- Stray-Pedersen, Asbjørg
- Küry, Sébastien
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Lebensqualität von langzeitbeatmeten Kindern und ihren Familien
- Morgenstern, Lydia
- Grolle, Benjamin
- Johannsen, Jessika
- Denecke, Jonas
- Bindt, Carola
- Wiegand-Grefe, Silke
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Lebensqualität von chronisch erkrankten Kindern und ihren Familien
- Morgenstern, Lydia
- Grolle, Benjamin
- Johannsen, Jessika
- Denecke, Jonas
- Bindt, Carola
- Wiegand-Grefe, Silke
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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
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Chronische Krankheit in der Familie
- Morgenstern, Lydia
- Grolle, Benjamin
- Johannsen, Jessika
- Denecke, Jonas
- Bindt, Carola
- Wiegand-Grefe, Silke
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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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Brainstem disconnection: two additional patients and expansion of the phenotype
- Poretti, Andrea
- Denecke, Jonas
- Miller, Douglas C
- Schiffmann, Holger
- Buhk, Jan Hendrik
- Grange, Dorothy K
- Doherty, Dan
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