8 Einträge gefunden

1. A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2

   1. Chepurwar, Shashank
   2. von Loh, Sarah M
   3. Wigger, Daniela C
   4. Neef, Jakob
   5. Frommolt, Peter
   6. Beutner, Dirk
   7. Lang-Roth, Ruth

   2023 - Forschungsinformationssystem des UKE
2. Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia

   1. Jandl, Nico Maximilian
   2. Schmidt, Tobias
   3. Rolvien, Tim
   4. Stürznickel, Julian
   5. Chrysostomou, Konstantin
   6. von Vopelius, Emil
   7. Volk, Alexander E

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
3. Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis

   1. Volk, Alexander E
   2. Weishaupt, Jochen H
   3. Andersen, Peter M
   4. Ludolph, Albert C
   5. Kubisch, Christian

   2018 - Forschungsinformationssystem des UKE
4. Comprehensive analysis of the mutation spectrum in 301 German ALS families

   1. Müller, Kathrin
   2. Brenner, David
   3. Weydt, Patrick
   4. Meyer, Thomas
   5. Grehl, Torsten
   6. Petri, Susanne
   7. Grosskreutz, Julian

   2018 - Forschungsinformationssystem des UKE
5. The rapid evolution of molecular genetic diagnostics in neuromuscular diseases

   1. Volk, Alexander E
   2. Kubisch, Christian

   2017 - Forschungsinformationssystem des UKE
6. AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance

   1. Lang-Roth, Ruth
   2. Fischer-Krall, Eva
   3. Kornblum, Cornelia
   4. Nürnberg, Gudrun
   5. Meschede, Dieter
   6. Goebel, Ingrid
   7. Nürnberg, Peter

   2017 - Forschungsinformationssystem des UKE
7. Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia

   1. Daud, Shakeela
   2. Kakar, Naseebullah
   3. Goebel, Ingrid
   4. Hashmi, Abu Saeed
   5. Yaqub, Tahir
   6. Nürnberg, Gudrun
   7. Nürnberg, Peter

   2016 - Forschungsinformationssystem des UKE
8. Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients.

   1. Volk, Alexander E
   2. Carter, Oliver
   3. Fricke, Julia
   4. Herkenrath, Peter
   5. Poggenborg, Jörg
   6. Borck, Guntram
   7. Demant, Andre W

   2011 - Forschungsinformationssystem des UKE - frei zugänglich