6 Einträge gefunden

1. Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies

   1. Reuter, Miriam S
   2. Zech, Michael
   3. Hempel, Maja
   4. Altmüller, Janine
   5. Heung, Tracy
   6. Pölsler, Laura
   7. Santer, René

   2022 - Forschungsinformationssystem des UKE
2. 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
3. ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

   1. Kloth, Katja
   2. Lozic, Bernarda
   3. Tagoe, Julia
   4. Hoffer, Mariëtte J V
   5. Van der Ven, Amelie
   6. Thiele, Holger
   7. Altmüller, Janine

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
4. Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome

   1. Ammann, Sandra
   2. Schulz, Ansgar
   3. Krägeloh-Mann, Ingeborg
   4. Dieckmann, Nele M G
   5. Niethammer, Klaus
   6. Fuchs, Sebastian
   7. Eckl, Katja Martina

   2016 - Forschungsinformationssystem des UKE
5. De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients

   1. Hübers, Annemarie
   2. Just, Walter
   3. Rosenbohm, Angela
   4. Müller, Kathrin
   5. Marroquin, Nicolai
   6. Goebel, Ingrid
   7. Högel, Josef

   2015 - Forschungsinformationssystem des UKE
6. Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.

   1. Huebner, Antje K
   2. Gandia, Marta
   3. Frommolt, Peter
   4. Maak, Anika
   5. Wicklein, Eva M.
   6. Thiele, Holger
   7. Altmüller, Janine

   2011 - Forschungsinformationssystem des UKE