Suchergebnisse - "Kopajtich, Robert"

PubPharm (90)

1

Genetic landscape of pediatric acute liver failure of indeterminate origin

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

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

2

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

3

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

4

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

5

De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke

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

von Brunet, T. | Zott, B. | Lieftüchter, V. | +46

6

ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2023

von Poggio, E. | Barazzuol, L. | Salmaso, A. | +26

7

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

enthalten in: bioRxiv.org | 2023

von Stenton, S. | Shimura, M. | Piekutowska-Abramczuk, D. | +65

8

Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease

enthalten in: Molecular genetics and metabolism | 10 August 2023

von Ven, A. | Cabrera-Orefice, A. | Wente, I. | +11

9

Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease

enthalten in: Molecular genetics and metabolism | 2023

von van der Ven, A. | Cabrera-Orefice, A. | Wente, I. | +11

10

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

enthalten in: bioRxiv.org | 2023

von Yépez, V. | Gusic, M. | Kopajtich, R. | +50

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