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Einrichtung
Medientyp
- Text 46
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Erscheinungsjahr
Autor/in
- Kubisch, Christian
- Lessel, Davor 11
- Borck, Guntram 10
- Volk, Alexander E 8
- Nürnberg, Peter 7
- alle zeigen
Sprache
- Englisch 46
46 Einträge gefunden
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A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2
- Chepurwar, Shashank
- von Loh, Sarah M
- Wigger, Daniela C
- Neef, Jakob
- Frommolt, Peter
- Beutner, Dirk
- Lang-Roth, Ruth
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Psychological distress of adult patients consulting a center for rare and undiagnosed diseases: a cross-sectional study
- Mund, Meike
- Uhlenbusch, Natalie
- Rillig, Franziska
- Weiler-Normann, Christina
- Herget, Theresia
- Kubisch, Christian
- Löwe, Bernd
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LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death
- Keil, Laura
- Berisha, Filip
- Knappe, Dorit
- Kubisch, Christian
- Shoukier, Moneef
- Kirchhof, Paulus
- Fabritz, Larissa
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Expanding the clinical spectrum of COL2A1 related disorders by a MASS like phenotype
- Demal, Till Joscha
- Scholz, Tasja
- Schüler, Helke
- Olfe, Jakob
- Fröhlich, Anja
- Speth, Fabian
- von Kodolitsch, Yskert
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A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies
- Lessel, Davor
- Rading, Katrin
- Campbell, Susan E
- Thiele, Holger
- Altmüller, Janine
- Gordon, Leslie B
- Kubisch, Christian
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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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Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia
- Jandl, Nico Maximilian
- Schmidt, Tobias
- Rolvien, Tim
- Stürznickel, Julian
- Chrysostomou, Konstantin
- von Vopelius, Emil
- Volk, Alexander E
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Fatal Myelotoxicity Following Palliative Chemotherapy With Cisplatin and Gemcitabine in a Patient With Stage IV Cholangiocarcinoma Linked to Post Mortem Diagnosis of Fanconi Anemia
- Engel, Nils W
- Schliffke, Simon
- Schüller, Ulrich
- Frenzel, Christian
- Bokemeyer, Carsten
- Kubisch, Christian
- Lessel, Davor
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Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies
- Kakar, Naseebullah
- Horn, Denise
- Decker, Eva
- Sowada, Nadine
- Kubisch, Christian
- Ahmad, Jamil
- Borck, Guntram
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Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis
2018 - Forschungsinformationssystem des UKE -
CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures
- Sargolzaeiaval, Forough
- Zhang, Jiaming
- Schleit, Jennifer
- Lessel, Davor
- Kubisch, Christian
- Precioso, Debora R
- Sillence, David
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Comprehensive analysis of the mutation spectrum in 301 German ALS families
- Müller, Kathrin
- Brenner, David
- Weydt, Patrick
- Meyer, Thomas
- Grehl, Torsten
- Petri, Susanne
- Grosskreutz, Julian
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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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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