E-LIB Suche - Ergebnisse für: Morris-Rosendahl, DJ

1

Refining the phenotype of α-1a Tubulin (TUBA1A) mutation in..:

Morris-Rosendahl, DJ ; Najm, J ; Lachmeijer, AMA...
Clinical Genetics. 74 (2008) 5 - p. 425-433 , 2008

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

2

PPA2-associated sudden cardiac death: extending the clinica..:

Guimier, A ; Achleitner, MT ; De Bellaing, AM...
Genetics in Medicine. , 2021

Link: http://hdl.handle.net/10..

3

PPA2-associated sudden cardiac death: extending the clinica..:

Guimier, A ; Achleitner, MT ; de Bellaing, AM...
issn:1098-3600. , 2021

Link: http://hdl.handle.net/11..

4

CardioClassifier: disease- and gene-specific computational ..:

Whiffin, N ; Walsh, R ; Govind, R...
Genetics in medicine : official journal of the American College of Medical Genetics, 2018, 20 (10), pp. 1246 - 1254. , 2019

Link: https://repository.icr.a..

5

De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy wi..:

Wallmeier, J ; Frank, D ; Shoemark, A...
https://discovery.ucl.ac.uk/id/eprint/10085532/5/Mitchison_De%20Novo%20Mutations%20in%20FOXJ1%20Result_AAM.pdf. , 2019

Link: https://discovery.ucl.ac..

6

CardioClassifier: disease- and gene-specific computational ..:

Whiffin, N ; Walsh, R ; Govind, R...
https://discovery.ucl.ac.uk/id/eprint/10065557/1/gim.2017.258.pdf. , 2018

Link: https://discovery.ucl.ac..

7

CardioClassifier – demonstrating the power of disease- and ..:

Whiffin, N ; Walsh, R ; Govind, R...
https://discovery.ucl.ac.uk/id/eprint/10065760/7/Ahmad_180109.full.pdf. , 2017

Link: https://discovery.ucl.ac..

8

What Next-Generation Sequencing (NGS) technology has enable..:

Morris-Rosendahl, DJ ; Kaindl, A
Molecular and Cellular Probes. , 2015

Link: http://hdl.handle.net/10..

9

A novel variant in PTPN11, c.1277A>G p.(His426Arg), in a..:

Kuo, Olivia ; Molloy, Kevin ; Sabir, Ataf...
Clinical and Experimental Dermatology. , 2024

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

10

Combined approaches, including long-read sequencing, addres..:

Fleming, Andrew ; Galey, Miranda ; Briggs, Lizi...
European Journal of Human Genetics. , 2024

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

11

Pathogenic Variant Frequencies in Hereditary Haemorrhagic T..:

Jain, Kinshuk ; McCarley, Sarah C. ; Mukhtar, Ghazel...
Journal of Clinical Medicine. 13 (2023) 1 - p. 250 , 2023

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

12

Clinical and Neurophysiologic Phenotypes in Neonates WithBR..:

Carapancea, Evelina ; Cornet, Marie-Coralie ; Milh, Mathieu...
Neurology. 100 (2023) 12 - p. , 2023

Link: https://doi.org/10.1212/..

13

Type II Endoleaks and Culprit Vessels: Will 4D MRI Change t..:

Hanna, Lydia ; Gibbs, Richard G.J. ; Athanasiou, Thanos...
European Journal of Vascular and Endovascular Surgery. 66 (2023) 1 - p. 148 , 2023

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

14

EMQN: Recommendations for genetic testing in inherited card..:

Hayesmoore, Jesse B. ; Bhuiyan, Zahurul A. ; Coviello, Domenico A....
European Journal of Human Genetics. 31 (2023) 9 - p. 1003-1009 , 2023

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

15

The genetic basis of thoracic aortic disease: The future of..:

Salmasi, M Yousuf ; Alwis, Shehani ; Cyclewala, Shabnam...
Hellenic Journal of Cardiology. 69 (2023) - p. 41-50 , 2023

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