E-LIB Suche - Ergebnisse für: Hay, Eleanor

1

Toward robust clinical genome interpretation: Developing a ..:

Roberts, Angharad M. ; DiStefano, Marina T. ; Riggs, Erin Rooney...
Genetics in Medicine. 26 (2024) 2 - p. 101029 , 2024

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

2

Personalized recurrence risk assessment following the birth..:

Bernkopf, Marie ; Abdullah, Ummi B. ; Bush, Stephen J....
Nature Communications. 14 (2023) 1 - p. , 2023

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

3

Epigenotype–genotype–phenotype correlations in SETD1A and S..:

Lee, Sunwoo ; Menzies, Lara ; Hay, Eleanor...
Human Molecular Genetics. 32 (2023) 22 - p. 3123-3134 , 2023

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

4

Evaluation of tumour surveillance protocols and outcomes in..:

Maher, Eamonn R. ; Adlard, Julian ; Barwell, Julian...
British Journal of Cancer. 126 (2022) 9 - p. 1339-1345 , 2022

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

5

Clinical spectrum of ectopia lentis presenting to a special..:

Williams, Katie M. ; Das, Aditi ; Gomez, Belen...
Journal of American Association for Pediatric Ophthalmology and Strabismus. 26 (2022) 4 - p. e59 , 2022

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

6

Recessive variants inCOL25A1gene as novel cause of arthrogr..:

Natera‐de Benito, Daniel ; Jurgens, Julie A. ; Yeung, Alison...
Human Mutation. 43 (2022) 4 - p. 487-498 , 2022

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

7

The Phenotypic Continuum ofATP1A3-Related Disorders:

Vezyroglou, Aikaterini ; Akilapa, Rhoda ; Barwick, Katy...
Neurology. 99 (2022) 14 - p. , 2022

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

8

Biallelic P4HTM variants associated with HIDEA syndrome and..:

Hay, Eleanor ; Wilson, Louise C. ; Hoskins, Bethan...
European Journal of Human Genetics. 29 (2021) 10 - p. 1536-1541 , 2021

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

9

A practical approach to the genomics of kidney disorders:

Hay, Eleanor ; Cullup, Thomas ; Barnicoat, Angela
Pediatric Nephrology. 37 (2021) 1 - p. 21-35 , 2021

Link: https://doi.org/10.1007/..

10

Expanding the phenotypic spectrum consequent upon de novo W..:

Hay, Eleanor ; Henderson, Robert H. ; Mansour, Sahar...
Clinical Genetics. 98 (2020) 2 - p. 191-197 , 2020

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

11

Parasitological research in the molecular age:

Selbach, Christian ; Jorge, Fátima ; Dowle, Eddy...
Parasitology. 146 (2019) 11 - p. 1361-1370 , 2019

Link: https://doi.org/10.1017/..

12

Taxonomic and geographic bias in the genetic study of helmi..:

Poulin, Robert ; Hay, Eleanor ; Jorge, Fátima
International Journal for Parasitology. 49 (2019) 6 - p. 429-435 , 2019

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

13

Ecological gradients drive insect wing loss and speciation:..:

McCulloch, Graham A. ; Foster, Brodie J. ; Dutoit, Ludovic...
Molecular Ecology. 28 (2019) 13 - p. 3141-3150 , 2019

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

14

The comparative phylogeography of shore crabs and their aca..:

Hay, Eleanor ; Jorge, Fátima ; Poulin, Robert
Marine Biology. 165 (2018) 4 - p. , 2018

Link: https://doi.org/10.1007/..

15

Body size shapes song in honeyeaters:

Hay, Eleanor M. ; McGee, Matthew D. ; White, Craig R..
Proceedings of the Royal Society B: Biological Sciences. 291 (2024) 2021 - p. , 2024

Link: https://doi.org/10.1098/..