Suchergebnisse - "Schlieben, Lea D"

PubPharm (14)

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

Machine Learning-Supported Diagnosis of Small Blue Round Cell Sarcomas Using Targeted RNA Sequencing

enthalten in: The Journal of molecular diagnostics : JMD | 2024

von Schlieben, L. | Carta, M. | Moskalev, E. | +12

3

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

4

Disorders of vesicular trafficking presenting with recurrent acute liver failure : NBAS, RINT1, and SCYL1 deficiency

enthalten in: Journal of inherited metabolic disease | 2024

von Peters, B. | Dattner, T. | Schlieben, L. | +3

5

Distinct neonatal hyperammonemia and liver synthesis dysfunction : case report of a severe MEGDHEL syndrome

enthalten in: Frontiers in pediatrics | 2024

von Kirchberg, I. | Lainka, E. | Gangfuß, A. | +5

6

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

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

von Vogel, G. | Mozer-Glassberg, Y. | Landau, Y. | +58

ErratumIn: Genet Med. 2023 Jun;25(6):100828. - PMID 37272928

7

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

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

von Vogel, G. | Mozer-Glassberg, Y. | Landau, Y. | +58

ErratumFor: Genet Med. 2023 Jun;25(6):100314. - PMID 36305855

8

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

enthalten in: Genetics in medicine | June 2023

von Vogel, G. | Mozer-Glassberg, Y. | Landau, Y. | +58

9

Genetics of mitochondrial diseases : Current approaches for the molecular diagnosis

enthalten in: Handbook of clinical neurology | 2023

von Schlieben, L. | Prokisch, H.

10

Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes

enthalten in: Human mutation | 2022

von Smirnov, D. | Schlieben, L. | Peymani, F. | +2