Suchergebnisse - "Prokisch, Holger"

PubPharm (640)

1

Direct neuronal reprogramming of NDUFS4 patient cells identifies the unfolded protein response as a novel general reprogramming hurdle

enthalten in: Neuron | 2024

von Sonsalla, G. | Malpartida, A. | Riedemann, T. | +13

2

ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease

enthalten in: Neuropediatrics | 2024

von Thiels, C. | Lücke, T. | Rothoeft, T. | +7

3

Genetic landscape of pediatric acute liver failure of indeterminate origin

enthalten in: Hepatology (Baltimore, Md.) | 2024

von Lenz, D. | Schlieben, L. | Shimura, M. | +92

4

Genome Aggregation Database Version 4-New Challenges of Variant Analysis in Movement Disorders

enthalten in: Movement disorders : official journal of the Movement Disorder Society | 2024

von Indelicato, E. | Romito, L. | Harrer, P. | +7

5

Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant

enthalten in: Brain : a journal of neurology | 2024

von Blickhäuser, B. | Stenton, S. | Neuhofer, C. | +21

6

Biallelic USP14 variants cause a syndromic neurodevelopmental disorder

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2024

von Ebstein, F. | Latypova, X. | Sharon Hung, K. | +21

7

Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease

enthalten in: Molecular genetics and metabolism | 2024

von Hammann, N. | Lenz, D. | Baric, I. | +32

8

Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy

enthalten in: American journal of human genetics | 2024

von Brugger, M. | Lauri, A. | Zhen, Y. | +37

9

New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years : Experience from a German Newborn Screening Center

enthalten in: International journal of neonatal screening | 2024

von Gramer, G. | Wortmann, S. | Fang-Hoffmann, J. | +5

10

Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy

enthalten in: Cell reports. Medicine | 2024

von Aleo, S. | Del Dotto, V. | Romagnoli, M. | +39

1
2
3
4
5
6
7
8
9
10
11
Nächster »
[64]