E-LIB Suche - Ergebnisse für: Henneke, Marco

1

A novel remitting leukodystrophy associated with a variant ..:

Gizak, Agnieszka ; Diegmann, Susann ; Dreha-Kulaczewski, Steffi...
Brain Communications. 3 (2021) 2 - p. , 2021

Link: https://doi.org/10.1093/..

2

Interferon-driven brain phenotype in a mouse model of RNase..:

Kettwig, Matthias ; Ternka, Katharina ; Wendland, Kristin...
Nature Communications. 12 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

3

The failure of microglia to digest developmental apoptotic ..:

Hamilton, Noémie ; Rutherford, Holly A. ; Petts, Jessica J....
Glia. 68 (2020) 7 - p. 1531-1545 , 2020

Link: https://doi.org/10.1002/..

4

Zebrafish disease model of human RNASET2 deficient cystic l..:

Weber, Thomas ; Schlotawa, Lars ; Dosch, Roland...
Biology Open. , 2020

Link: https://doi.org/10.1242/..

5

The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neur..:

Döring, Jan Henje ; Saffari, Afshin ; Bast, Thomas...
Biomedicines. 8 (2020) 11 - p. 456 , 2020

Link: https://doi.org/10.3390/..

6

Einseitige Optikusatrophie bei einem 9-jährigen Patienten:

Nguyen-Höhl, Anna ; Khattab, Mohammed H. ; Henneke, Marco...
Der Ophthalmologe. 118 (2020) 4 - p. 399-403 , 2020

Link: https://doi.org/10.1007/..

7

Immune Sensing of Synthetic, Bacterial, and Protozoan RNA b..:

Ostendorf, Thomas ; Zillinger, Thomas ; Andryka, Katarzyna...
Immunity. 52 (2020) 4 - p. 591-605.e6 , 2020

Link: https://doi.org/10.1016/..

8

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-..:

Alston, Charlotte L. ; Heidler, Juliana ; Dibley, Marris G....
The American Journal of Human Genetics. 103 (2018) 4 - p. 592-601 , 2018

Link: https://doi.org/10.1016/..

9

Compound heterozygous variants in PGAP1 causing severe psyc..:

Kettwig, Matthias ; Elpeleg, Orly ; Wegener, Eike...
BMC Neurology. 16 (2016) 1 - p. , 2016

Link: https://doi.org/10.1186/..

10

Clinical, radiological and possible pathological overlap of..:

Tonduti, Davide ; Orcesi, Simona ; Jenkinson, Emma M....
European Journal of Paediatric Neurology. 20 (2016) 4 - p. 604-610 , 2016

Link: https://doi.org/10.1016/..

11

Phenotypic and molecular insights into CASK-related disorde..:

Moog, Ute ; Bierhals, Tatjana ; Brand, Kristina...
Orphanet Journal of Rare Diseases. 10 (2015) 1 - p. , 2015

Link: https://doi.org/10.1186/..

12

Complex Genomic Rearrangements at the PLP1 Locus Include Tr..:

Beck, Christine R. ; Carvalho, Claudia M. B. ; Banser, Linda...
PLOS Genetics. 11 (2015) 3 - p. e1005050 , 2015

Link: https://doi.org/10.1371/..

13

Diagnosis by whole exome sequencing of atypical infantile o..:

Nishri, Daniella ; Edvardson, Simon ; Lev, Dorit...
European Journal of Paediatric Neurology. 18 (2014) 4 - p. 495-501 , 2014

Link: https://doi.org/10.1016/..

14

Mutations in the mitochondrial gene C12ORF65 lead to syndro..:

Buchert, Rebecca ; Uebe, Steffen ; Radwan, Farah...
European Journal of Medical Genetics. 56 (2013) 11 - p. 599-602 , 2013

Link: https://doi.org/10.1016/..

15

Assessment of myelination in hypomyelinating disorders by q..:

Dreha‐Kulaczewski, Steffi F. ; Brockmann, Knut ; Henneke, Marco...
Journal of Magnetic Resonance Imaging. 36 (2012) 6 - p. , 2012

Link: https://doi.org/10.1002/..