Suchergebnisse - "Lausberg, Eva"

PubPharm (8)

1

Genetic (Re-)evaluation to Optimize the Care of Adults With Intellectual Disability

enthalten in: Deutsches Arzteblatt international | 2022

von Knopp, C. | Steiner, R. | Lausberg, E. | +11

CommentOn: Genet Med. 2022 Jul;24(7):1536-1544. - PMID 35416776

2

PHIP-associated Chung-Jansen syndrome : Report of 23 new individuals

enthalten in: Frontiers in cell and developmental biology | 2022

von Kampmeier, A. | Leitão, E. | Parenti, I. | +34

3

A Hypercaloric Diet Induces Early Podocyte Damage in Aged, Non-Diabetic Rats

enthalten in: Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology | 2021

von Seikrit, C. | Lausberg, E. | Buhl, E. | +12

4

A human multisystem disorder with autoinflammation, leukoencephalopathy and hepatopathy is caused by mutations in C2orf69

enthalten in: bioRxiv.org | 2021

von Lausberg, E. | Gießelmann, S. | Dewulf, J. | +29

5

C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation

enthalten in: The Journal of clinical investigation | 2021

von Lausberg, E. | Gießelmann, S. | Dewulf, J. | +31

6

Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting

enthalten in: Journal of medical genetics | 2021

von Eggermann, T. | Kraft, F. | Lausberg, E. | +2

CommentIn: J Med Genet. 2023 Feb;60(2):131-133. - PMID 35772846

7

Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles

enthalten in: Brain : a journal of neurology | 2020

von Hedberg-Oldfors, C. | Meyer, R. | Nolte, K. | +21

ErratumIn: Brain. 2021 Apr 12;144(3):e34. - PMID 33313686

8

Nucleolar-nucleoplasmic shuttling of TARG1 and its control by DNA damage-induced poly-ADP-ribosylation and by nucleolar transcription

enthalten in: Scientific reports | 2018

von Bütepage, M. | Preisinger, C. | von Kriegsheim, A. | +13

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