10 Einträge gefunden

1. Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia

   1. Schob, Claudia
   2. Hempel, Maja
   3. Brozkova, Dana Safka
   4. Jiang, Huafang
   5. Kim, Soo Yeon
   6. Batzir, Nurit Assia
   7. Orenstein, Naama

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
2. A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions

   1. Coste de Bagneaux, Pierre
   2. von Elsner, Leonie
   3. Bierhals, Tatjana
   4. Campiglio, Marta
   5. Johannsen, Jessika
   6. Obermair, Gerald J
   7. Hempel, Maja

   2020 - Forschungsinformationssystem des UKE
3. The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation

   1. Hecher, Laura
   2. Johannsen, Jessika
   3. Bierhals, Tatjana
   4. Buhk, Jan-Hendrik
   5. Hempel, Maja
   6. Denecke, Jonas

   2020 - Forschungsinformationssystem des UKE
4. Phenotype in an Infant with SOD1 Homozygous Truncating Mutation

   1. Andersen, Peter M
   2. Nordström, Ulrika
   3. Tsiakas, Konstantinos
   4. Johannsen, Jessika
   5. Volk, Alexander E
   6. Bierhals, Tatjana
   7. Zetterström, Per

   2019 - Forschungsinformationssystem des UKE
5. Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant

   1. Johannsen, Jessika
   2. Bierhals, Tatjana
   3. Deindl, Philipp
   4. Hecher, Laura
   5. Hermann, Katharina
   6. Hempel, Maja
   7. Kloth, Katja

   2019 - 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. 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
8. Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

   1. Oud, Machteld M
   2. Tuijnenburg, Paul
   3. Hempel, Maja
   4. van Vlies, Naomi
   5. Ren, Zemin
   6. Ferdinandusse, Sacha
   7. Jansen, Machiel H

   2017 - Forschungsinformationssystem des UKE
9. Exome Sequencing is a Valuable Approach in Critically Ill Patients with Suspected Monogenic Disease: Diagnosis of X-linked Centronuclear Myopathy in Preterm Twins

   1. Johannsen, Jessika
   2. Hempel, Maja
   3. Diehl, Thilo
   4. Haack, Tobias B
   5. Denecke, Jonas

   2017 - Forschungsinformationssystem des UKE - frei zugänglich
10. De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment

    1. Hempel, Maja
    2. Cremer, Kirsten
    3. Ockeloen, Charlotte W
    4. Lichtenbelt, Klaske D
    5. Herkert, Johanna C
    6. Denecke, Jonas
    7. Haack, Tobias B

    2015 - Forschungsinformationssystem des UKE