11 Einträge gefunden

1. 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
2. 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
3. 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
4. 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
5. 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
6. Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1

   1. Said, Edith
   2. Chong, Jessica X
   3. Hempel, Maja
   4. Denecke, Jonas
   5. Soler, Paul
   6. Strom, Tim
   7. Nickerson, Deborah A

   2017 - Forschungsinformationssystem des UKE
7. Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies

   1. Hempel, Maja
   2. Casar Tena, Teresa
   3. Diehl, Thilo
   4. Burczyk, Martina S
   5. Strom, Tim M
   6. Kubisch, Christian
   7. Philipp, Melanie

   2017 - Forschungsinformationssystem des UKE
8. First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features

   1. Kloth, Katja
   2. Denecke, Jonas
   3. Hempel, Maja
   4. Johannsen, Jessika
   5. Strom, Tim M
   6. Kubisch, Christian
   7. Lessel, Davor

   2017 - Forschungsinformationssystem des UKE
9. Carpal tunnel syndrome is associated with high fibrinogen and fibrinogen deposits

   1. Utrobičić, Ivan
   2. Novak, Ivana
   3. Marinović-Terzić, Ivana
   4. Matić, Katarina
   5. Lessel, Davor
   6. Salamunić, Ilza
   7. Babić, Mirna Saraga

   2014 - Forschungsinformationssystem des UKE
10. Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry

    1. Saha, Bidisha
    2. Lessel, Davor
    3. Nampoothiri, Sheela
    4. Rao, Anuradha S
    5. Hisama, Fuki M
    6. Peter, Dincy
    7. Bennett, Chris

    2013 - Forschungsinformationssystem des UKE - frei zugänglich
11. Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.

    1. Hisama, Fuki M
    2. Lessel, Davor
    3. Leistritz, Dru
    4. Friedrich, Katrin
    5. McBride, Kim L
    6. Pastore, Matthew T
    7. Gottesman, Gary S

    2011 - Forschungsinformationssystem des UKE