Facetten
Zugriff
Einrichtung
Medientyp
- Text 26
Karte
Erscheinungsjahr
Autor/in
- Bierhals, Tatjana
- Hempel, Maja 11
- Johannsen, Jessika 7
- Kutsche, Kerstin 7
- Kloth, Katja 5
- alle zeigen
Sprache
- Englisch 26
26 Einträge gefunden
-
-
Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series
- Seiffert, Simone
- Pendziwiat, Manuela
- Bierhals, Tatjana
- Goel, Himanshu
- Schwarz, Niklas
- van der Ven, Amelie
- Boßelmann, Christian Malte
-
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
- Christensen, Maria B
- Levy, Amanda M
- Mohammadi, Nazanin A
- Niceta, Marcello
- Kaiyrzhanov, Rauan
- Dentici, Maria Lisa
- Al Alam, Chadi
-
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies
- Manivannan, Sathiya N
- Roovers, Jolien
- Smal, Noor
- Myers, Candace T
- Turkdogan, Dilsad
- Roelens, Filip
- Kanca, Oguz
-
-
-
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics
- Begemann, Anaïs
- Sticht, Heinrich
- Begtrup, Amber
- Vitobello, Antonio
- Faivre, Laurence
- Banka, Siddharth
- Alhaddad, Bader
-
The natural history of Canavan disease: 23 new cases and comparison with patients from literature
- Bley, Annette
- Denecke, Jonas
- Kohlschütter, Alfried
- Schön, Gerhard
- Hischke, Sandra
- Guder, Philipp
- Bierhals, Tatjana
-
Dominant KPNA3 Mutations Cause Infantile Onset Hereditary Spastic Paraplegia
- Schob, Claudia
- Hempel, Maja
- Brozkova, Dana Safka
- Jiang, Huafang
- Kim, Soo Yeon
- Batzir, Nurit Assia
- Orenstein, Naama
-
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort
- van der Ven, Amelie T
- Johannsen, Jessika
- Kortüm, Fanny
- Wagner, Matias
- Tsiakas, Konstantinos
- Bierhals, Tatjana
- Lessel, Davor
-
-
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
- Coste de Bagneaux, Pierre
- von Elsner, Leonie
- Bierhals, Tatjana
- Campiglio, Marta
- Johannsen, Jessika
- Obermair, Gerald J
- Hempel, Maja
-
POLR3A variants with striatal involvement and extrapyramidal movement disorder
- Harting, Inga
- Al-Saady, Murtadha
- Krägeloh-Mann, Ingeborg
- Bley, Annette
- Hempel, Maja
- Bierhals, Tatjana
- Karch, Stephanie
-
-
-
-
Phenotype in an Infant with SOD1 Homozygous Truncating Mutation
- Andersen, Peter M
- Nordström, Ulrika
- Tsiakas, Konstantinos
- Johannsen, Jessika
- Volk, Alexander E
- Bierhals, Tatjana
- Zetterström, Per
-
Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype
- Kloth, Katja
- Bierhals, Tatjana
- Johannsen, Jessika
- Harms, Frederike L
- Juusola, Jane
- Johnson, Mark C
- Grange, Dorothy K
-
de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation
2019 - Forschungsinformationssystem des UKE - frei zugänglich -
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
- Johannsen, Jessika
- Bierhals, Tatjana
- Deindl, Philipp
- Hecher, Laura
- Hermann, Katharina
- Hempel, Maja
- Kloth, Katja