37 Einträge gefunden

1. Aggressive variants of prostate cancer: underlying mechanisms of neuroendocrine transdifferentiation

   1. Merkens, Lina
   2. Sailer, Verena
   3. Lessel, Davor
   4. Janzen, Ella
   5. Greimeier, Sarah
   6. Kirfel, Jutta
   7. Perner, Sven

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
2. Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy

   1. Dahimene, Shehrazade
   2. von Elsner, Leonie
   3. Holling, Tess
   4. Mattas, Lauren S
   5. Pickard, Jess
   6. Lessel, Davor
   7. Pilch, Kjara S

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
3. Werner syndrome in a Lebanese family

   1. Jaafar, Batoul
   2. Nasrallah, Mona
   3. Sievers, Bianca
   4. Oshima, Junko
   5. Lessel, Davor

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
4. A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies

   1. Lessel, Davor
   2. Rading, Katrin
   3. Campbell, Susan E
   4. Thiele, Holger
   5. Altmüller, Janine
   6. Gordon, Leslie B
   7. Kubisch, Christian

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
5. Comprehensive Clinical and Genetic Analysis of CHEK2 in Croatian Men with Prostate Cancer

   1. Kirchner, Kira
   2. Gamulin, Marija
   3. Kulis, Tomislav
   4. Sievers, Bianca
   5. Kastelan, Zeljko
   6. Lessel, Davor

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
6. Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

   1. van der Ven, Amelie T
   2. Johannsen, Jessika
   3. Kortüm, Fanny
   4. Wagner, Matias
   5. Tsiakas, Konstantinos
   6. Bierhals, Tatjana
   7. Lessel, Davor

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
7. Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis

   1. Scholz, Tasja
   2. Blohm, Martin Ernst
   3. Kortüm, Fanny
   4. Bierhals, Tatjana
   5. Lessel, Davor
   6. van der Ven, Amelie T
   7. Lisfeld, Jasmin

   2021 - Forschungsinformationssystem des UKE
8. Mutations in genes encoding regulators of mRNA decapping and translation initiation: links to intellectual disability

   1. Weil, Dominique
   2. Piton, Amélie
   3. Lessel, Davor
   4. Standart, Nancy

   2020 - Forschungsinformationssystem des UKE
9. Germline AGO2 mutations impair RNA interference and human neurological development

   1. Lessel, Davor
   2. Zeitler, Daniela M
   3. Reijnders, Margot R F
   4. Kazantsev, Andriy
   5. Hassani Nia, Fatemeh
   6. Bartholomäus, Alexander
   7. Martens, Victoria

   2020 - Forschungsinformationssystem des UKE
10. Nine newly identified individuals refine the phenotype associated with MYT1L mutations

    1. Windheuser, Isabelle C
    2. Becker, Jessica
    3. Cremer, Kirsten
    4. Hundertmark, Hela
    5. Yates, Laura M
    6. Mangold, Elisabeth
    7. Peters, Sophia

    2020 - Forschungsinformationssystem des UKE
11. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

    1. Mak, Christopher C Y
    2. Doherty, Dan
    3. Lin, Angela E
    4. Vegas, Nancy
    5. Cho, Megan T
    6. Viot, Géraldine
    7. Dimartino, Clémantine

    2020 - Forschungsinformationssystem des UKE
12. Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

    1. Elouej, Sahar
    2. Harhouri, Karim
    3. Le Mao, Morgane
    4. Baujat, Genevieve
    5. Nampoothiri, Sheela
    6. Kayserili, Hϋlya
    7. Menabawy, Nihal Al

    2020 - Forschungsinformationssystem des UKE
13. Fatal Myelotoxicity Following Palliative Chemotherapy With Cisplatin and Gemcitabine in a Patient With Stage IV Cholangiocarcinoma Linked to Post Mortem Diagnosis of Fanconi Anemia

    1. Engel, Nils W
    2. Schliffke, Simon
    3. Schüller, Ulrich
    4. Frenzel, Christian
    5. Bokemeyer, Carsten
    6. Kubisch, Christian
    7. Lessel, Davor

    2019 - Forschungsinformationssystem des UKE - frei zugänglich
14. Genetisch bedingte Syndrome mit Zeichen einer vorzeitigen Alterung, Hereditary Syndromes with Signs of Premature Aging

    1. Lessel, Davor
    2. Kubisch, Christian

    2019 - Forschungsinformationssystem des UKE
15. SPRTN protease and checkpoint kinase 1 cross-activation loop safeguards DNA replication

    1. Halder, Swagata
    2. Torrecilla, Ignacio
    3. Burkhalter, Martin D
    4. Popović, Marta
    5. Fielden, John
    6. Vaz, Bruno
    7. Oehler, Judith

    2019 - Forschungsinformationssystem des UKE - frei zugänglich
16. Recessive mutations in >VPS13D cause childhood-onset movement disorders

    1. Gauthier, Julie
    2. Meijer, Inge A
    3. Lessel, Davor
    4. Mencacci, Niccolò E
    5. Krainc, Dimitri
    6. Hempel, Maja
    7. Tsiakas, Konstantinos

    2018 - Forschungsinformationssystem des UKE
17. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

    1. Lessel, Davor
    2. Gehbauer, Christina
    3. Bramswig, Nuria C
    4. Schluth-Bolard, Caroline
    5. Venkataramanappa, Sathish
    6. van Gassen, Koen L I
    7. Hempel, Maja

    2018 - Forschungsinformationssystem des UKE
18. Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

    1. Harms, Frederike L
    2. Kloth, Katja
    3. Bley, Annette
    4. Denecke, Jonas
    5. Santer, René
    6. Lessel, Davor
    7. Hempel, Maja

    2018 - Forschungsinformationssystem des UKE
19. Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations

    1. Lessel, Davor
    2. Ozel, Ayse Bilge
    3. Campbell, Susan E
    4. Saadi, Abdelkrim
    5. Arlt, Martin F
    6. McSweeney, Keisha Melodi
    7. Plaiasu, Vasilica

    2018 - Forschungsinformationssystem des UKE
20. CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures

    1. Sargolzaeiaval, Forough
    2. Zhang, Jiaming
    3. Schleit, Jennifer
    4. Lessel, Davor
    5. Kubisch, Christian
    6. Precioso, Debora R
    7. Sillence, David

    2018 - Forschungsinformationssystem des UKE - frei zugänglich