8 Einträge gefunden

1. TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype

   1. Cenni, Camille
   2. Andres, Stephanie
   3. Hempel, Maja
   4. Strom, Tim M
   5. Thomas, Ellen
   6. Davies, Angela
   7. Timoney, Norma

   2021 - Forschungsinformationssystem des UKE
2. SQSTM1/p62 variants in 486 patients with familial ALS from Germany and Sweden

   1. Yilmaz, Rüstem
   2. Müller, Kathrin
   3. Brenner, David
   4. Volk, Alexander E
   5. Borck, Guntram
   6. Hermann, Andreas
   7. Meitinger, Thomas

   2020 - Forschungsinformationssystem des UKE
3. Exom-Sequenzierung bei Kindern:Ungeklärte Entwicklungsstörungen und neurologische Erkrankungen, Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness

   1. Mahler, Elisa A
   2. Johannsen, Jessika
   3. Tsiakas, Konstantinos
   4. Kloth, Katja
   5. Lüttgen, Sabine
   6. Mühlhausen, Chris
   7. Alhaddad, Bader

   2019 - Forschungsinformationssystem des UKE
4. 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
5. De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities

   1. Martin, Sonja
   2. Chamberlin, Adam
   3. Shinde, Deepali N
   4. Hempel, Maja
   5. Strom, Tim M
   6. Schreiber, Allison
   7. Johannsen, Jessika

   2017 - Forschungsinformationssystem des UKE
6. 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
7. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

   1. Wortmann, Saskia B
   2. Ziętkiewicz, Szymon
   3. Kousi, Maria
   4. Szklarczyk, Radek
   5. Haack, Tobias B
   6. Gersting, Søren W
   7. Muntau, Ania C

   2015 - Forschungsinformationssystem des UKE
8. Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease

   1. Müller, Kathrin
   2. Andersen, Peter M
   3. Hübers, Annemarie
   4. Marroquin, Nicolai
   5. Volk, Alexander E
   6. Danzer, Karin M
   7. Meitinger, Thomas

   2014 - Forschungsinformationssystem des UKE