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Einrichtung
Medientyp
- Text 37
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Erscheinungsjahr
Autor/in
- Lessel, Davor
- Kubisch, Christian 11
- Hisama, Fuki M 7
- Hempel, Maja 6
- Denecke, Jonas 5
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Sprache
- Englisch 37
37 Einträge gefunden
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Comprehensive Clinical and Genetic Analysis of CHEK2 in Croatian Men with Prostate Cancer
2022 - Forschungsinformationssystem des UKE - frei zugänglich -
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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Werner syndrome in a Lebanese family
2022 - Forschungsinformationssystem des UKE - frei zugänglich -
Aggressive variants of prostate cancer: underlying mechanisms of neuroendocrine transdifferentiation
2022 - Forschungsinformationssystem des UKE - frei zugänglich -
Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy
- Dahimene, Shehrazade
- von Elsner, Leonie
- Holling, Tess
- Mattas, Lauren S
- Pickard, Jess
- Lessel, Davor
- Pilch, Kjara S
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Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort
- van der Ven, Amelie T
- Johannsen, Jessika
- Kortüm, Fanny
- Wagner, Matias
- Tsiakas, Konstantinos
- Bierhals, Tatjana
- Lessel, Davor
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Mutations in genes encoding regulators of mRNA decapping and translation initiation: links to intellectual disability
2020 - Forschungsinformationssystem des UKE -
Nine newly identified individuals refine the phenotype associated with MYT1L mutations
- Windheuser, Isabelle C
- Becker, Jessica
- Cremer, Kirsten
- Hundertmark, Hela
- Yates, Laura M
- Mangold, Elisabeth
- Peters, Sophia
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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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SPRTN protease and checkpoint kinase 1 cross-activation loop safeguards DNA replication
- Halder, Swagata
- Torrecilla, Ignacio
- Burkhalter, Martin D
- Popović, Marta
- Fielden, John
- Vaz, Bruno
- Oehler, Judith
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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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Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations
- Lessel, Davor
- Ozel, Ayse Bilge
- Campbell, Susan E
- Saadi, Abdelkrim
- Arlt, Martin F
- McSweeney, Keisha Melodi
- Plaiasu, Vasilica
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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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Recessive mutations in >VPS13D cause childhood-onset movement disorders
- Gauthier, Julie
- Meijer, Inge A
- Lessel, Davor
- Mencacci, Niccolò E
- Krainc, Dimitri
- Hempel, Maja
- Tsiakas, Konstantinos