Suchergebnisse - "Seiler, Christoph"

PubPharm (280)

1

Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder

enthalten in: Human genetics | 2024

von Iwata-Otsubo, A. | Skraban, C. | Yoshimura, A. | +18

2

Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder

enthalten in: Human genetics | 2024

von Iwata-Otsubo, A. | Skraban, C. | Yoshimura, A. | +18

3

Novel Development of Magnetic Resonance Imaging to Quantify the Structural Anatomic Growth of Diverse Organs in Adult and Mutant Zebrafish

enthalten in: Zebrafish | 2024

von Sharma, S. | Magnitsky, S. | Reesey, E. | +9

4

N-acetylcysteine and cysteamine bitartrate prevent azide-induced neuromuscular decompensation by restoring glutathione balance in two novel surf1-/- zebrafish deletion models of Leigh syndrome

enthalten in: Human molecular genetics | 2023

von Haroon, S. | Yoon, H. | Seiler, C. | +10

5

Genomic profiling informs diagnoses and treatment in vascular anomalies

enthalten in: Nature medicine | 2023

von Li, D. | Sheppard, S. | March, M. | +39

6

Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition

enthalten in: JCI insight | 2023

von Sheppard, S. | March, M. | Seiler, C. | +30

7

Pleiotropic effects of a high confidence Autism Spectrum Disorder gene, arid1b, on zebrafish sleep

enthalten in: Neurobiology of sleep and circadian rhythms | 2023

von Doldur-Balli, F. | Zimmerman, A. | Keenan, B. | +5

8

COMPOSITIONS AND METHODS FOR THE DIAGNOSIS AND TREATMENT OF LYMPHATIC SYSTEM DISORDERS

enthalten in: Europäisches Patentamt | 2022

von HAKONARSON HAKON | DORI YOAV | LI DONG | +3

9

Dichloroacetate improves mitochondrial function, physiology, and morphology in FBXL4 disease models

enthalten in: JCI insight | 2022

von Lavorato, M. | Nakamaru-Ogiso, E. | Mathew, N. | +6

10

COMPOSITIONS AND METHODS FOR THE DIAGNOSIS AND TREATMENT OF LYMPHATIC SYSTEM DISORDERS

enthalten in: Europäisches Patentamt | 2022

von HAKONARSON HAKON | DORI YOAV | LI DONG | +3

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