Suchergebnisse - "Kurth, Ingo"

PubPharm (251)

11

Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagy

enthalten in: Nature | 2023

von Foronda, H. | Fu, Y. | Covarrubias-Pinto, A. | +20

12

Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco

enthalten in: Bone reports | 2023

von Mattern, L. | Begemann, M. | Delbrück, H. | +5

13

Identification of Adult Patients With Classical Dyskeratosis Congenita or Cryptic Telomere Biology Disorder by Telomere Length Screening Using Age-modified Criteria

enthalten in: HemaSphere | 2023

von Tometten, M. | Kirschner, M. | Meyer, R. | +21

14

DDX41 germline variants causing donor cell leukemia indicate a need for further genetic workup in the context of hematopoietic stem cell transplantation

enthalten in: Blood cancer journal | 2023

von Rolles, B. | Meyer, R. | Begemann, M. | +6

15

Identification of adult patients with classical dyskeratosis congenita or cryptic telomere biology disorder by telomere length screening using age-modified criteria

enthalten in: HemaSphere | May 2023

von Tometten, M. | Kirschner, M. | Meyer, R. | +21

16

Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients : a comprehensive approach

enthalten in: Clinical epigenetics | 2023

von Bilo, L. | Ochoa, E. | Lee, S. | +13

17

Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach

enthalten in: Clinical epigenetics | 2023

von Bilo, L. | Ochoa, E. | Lee, S. | +13

18

Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach

enthalten in: Clinical epigenetics | 2023

von Bilo, L. | Ochoa, E. | Lee, S. | +13

19

Functional connectivity signatures of NMDAR dysfunction in schizophrenia-integrating findings from imaging genetics and pharmaco-fMRI

enthalten in: Translational psychiatry | 2023

von Gaebler, A. | Fakour, N. | Stöhr, F. | +16

20

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

enthalten in: Nature | 2023

von Mensah, M. | Niskanen, H. | Magalhaes, A. | +37