11 Einträge gefunden

1. de novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias

   1. Harms, Frederike L
   2. Dingemans, Alexander J M
   3. Hempel, Maja
   4. Pfundt, Rolph
   5. Bierhals, Tatjana
   6. Casar, Christian
   7. Müller, Christian

   2023 - Forschungsinformationssystem des UKE
2. The natural history of Canavan disease: 23 new cases and comparison with patients from literature

   1. Bley, Annette
   2. Denecke, Jonas
   3. Kohlschütter, Alfried
   4. Schön, Gerhard
   5. Hischke, Sandra
   6. Guder, Philipp
   7. Bierhals, Tatjana

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
3. 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
4. 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
5. POLR3A variants with striatal involvement and extrapyramidal movement disorder

   1. Harting, Inga
   2. Al-Saady, Murtadha
   3. Krägeloh-Mann, Ingeborg
   4. Bley, Annette
   5. Hempel, Maja
   6. Bierhals, Tatjana
   7. Karch, Stephanie

   2020 - Forschungsinformationssystem des UKE
6. 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
7. Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

   1. Wagner, Matias
   2. Lévy, Jonathan
   3. Jung-Klawitter, Sabine
   4. Bakhtiari, Somayeh
   5. Monteiro, Fabiola
   6. Maroofian, Reza
   7. Bierhals, Tatjana

   2020 - Forschungsinformationssystem des UKE
8. de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation

   1. Schneeberger, Pauline E
   2. Bierhals, Tatjana
   3. Neu, Axel
   4. Hempel, Maja
   5. Kutsche, Kerstin

   2019 - Forschungsinformationssystem des UKE - frei zugänglich
9. 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
10. 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
11. Phenotypic and molecular insights into CASK-related disorders in males

    1. Moog, Ute
    2. Bierhals, Tatjana
    3. Brand, Kristina
    4. Bautsch, Jan
    5. Biskup, Saskia
    6. Brune, Thomas
    7. Denecke, Jonas

    2015 - Forschungsinformationssystem des UKE - frei zugänglich