E-LIB Suche - Ergebnisse für: Stewart, Helen

1

E023 Intimomedial mucoid degeneration. A rare vascular dise..:

Black, Sarah ; Wray, Maria ; Stewart, Helen...
Rheumatology. 63 (2024) Supplement_1 - p. , 2024

Link: https://doi.org/10.1093/..

2

Satellite Synthetic Aperture Radar, Multispectral, and Infr..:

Cusson, Daniel ; Stewart, Helen
Remote Sensing. 16 (2024) 4 - p. 614 , 2024

Link: https://doi.org/10.3390/..

3

Models of KPTN-related disorder implicate mTOR signalling i..:

Levitin, Maria O ; Rawlins, Lettie E ; Sanchez-Andrade, Gabriela...
Brain. 146 (2023) 11 - p. 4766-4783 , 2023

Link: https://doi.org/10.1093/..

4

Genetic association analysis of 77,539 genomes reveals rare..:

Greene, Daniel ; Pirri, Daniela ; Frudd, Karen...
Nature Medicine. 29 (2023) 3 - p. 679-688 , 2023

Link: https://doi.org/10.1038/..

5

Detailed Analysis of ITPR1 Missense Variants Guides Diagnos..:

Tolonen, Jussi Pekka ; Parolin Schnekenberg, Ricardo ; McGowan, Simon...
Movement Disorders. 39 (2023) 1 - p. 141-151 , 2023

Link: https://doi.org/10.1002/..

6

Clinical, genetic, epidemiologic, evolutionary, and functio..:

Jackson, Adam ; Lin, Sheng-Jia ; Jones, Elizabeth A....
Human Genetics and Genomics Advances. 4 (2023) 2 - p. 100186 , 2023

Link: https://doi.org/10.1016/..

7

The UK Crop Microbiome Cryobank: a utility and model for su..:

Ryan, Matthew J. ; Mauchline, Tim H. ; Malone, Jacob G....
CABI Agriculture and Bioscience. 4 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

8

Genome sequencing identifies KMT2E‐disrupting cryptic struc..:

Hashim, Mona ; Stewart, Helen ; Yu, Jing...
Clinical Genetics. 104 (2023) 3 - p. 390-392 , 2023

Link: https://doi.org/10.1111/..

9

Clinical findings and structural analysis involving a patie..:

Caswell, Richard C. ; Baptista, Julia ; Cairns, Lauren M...
European Journal of Medical Genetics. 66 (2023) 6 - p. 104768 , 2023

Link: https://doi.org/10.1016/..

10

Germline pathogenic variants in HNRNPU are associated with ..:

Lee, Sunwoo ; Ochoa, Eguzkine ; Badura-Stronka, Magdalena...
European Journal of Human Genetics. 31 (2023) 9 - p. 1040-1047 , 2023

Link: https://doi.org/10.1038/..

11

SOX5: Lamb–Shaffer syndrome—A case series further expanding..:

Edgerley, Katharine ; Bryson, Lisa ; Hanington, Lucy...
American Journal of Medical Genetics Part A. 191 (2023) 5 - p. 1447-1458 , 2023

Link: https://doi.org/10.1002/..

12

An HNRNPK-specific DNA methylation signature makes sense of..:

Choufani, Sanaa ; McNiven, Vanda ; Cytrynbaum, Cheryl...
The American Journal of Human Genetics. 109 (2022) 10 - p. 1867-1884 , 2022

Link: https://doi.org/10.1016/..

13

Non-coding region variants upstream of MEF2C cause severe d..:

Wright, Caroline F. ; Quaife, Nicholas M. ; Ramos-Hernández, Laura...
The American Journal of Human Genetics. 108 (2021) 6 - p. 1083-1094 , 2021

Link: https://doi.org/10.1016/..

14

Comprehensive study of 28 individuals with SIN3A-related di..:

Balasubramanian, Meena ; Dingemans, Alexander J. M. ; Albaba, Shadi...
European Journal of Human Genetics. 29 (2021) 4 - p. 625-636 , 2021

Link: https://doi.org/10.1038/..

15

Recurrent KCNT2 missense variants affecting p.Arg190 result..:

Jackson, Adam ; Banka, Siddharth ; Stewart, Helen...
American Journal of Medical Genetics Part A. 185 (2021) 10 - p. 3083-3091 , 2021

Link: https://doi.org/10.1002/..