Suchergebnisse - "Elbracht, Miriam"

PubPharm (4)

1

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

2

Inherited cases of CNOT3-associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies

enthalten in: Clinical genetics | 2020

von Meyer, R. | Begemann, M. | Demuth, S. | +9

3

Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulation

enthalten in: Clinical epigenetics | 2016

von Bohne, F. | Langer, D. | Martiné, U. | +11

4

CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome

enthalten in: Human molecular genetics | 2010

von Batsukh, T. | Pieper, L. | Koszucka, A. | +6

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