E-LIB Suche - Ergebnisse für: Halachev, Mihail

1

Short-read whole genome sequencing identifies causative var..:

Hall, Hildegard Nikki ; Parry, David ; Halachev, Mihail...
Journal of Medical Genetics. , 2023

Link: https://doi.org/10.1136/..

2

Identification and functional modelling of plausibly causat..:

Bengani, Hemant ; Grozeva, Detelina ; Moyon, Lambert...
PLOS ONE. 16 (2021) 8 - p. e0256181 , 2021

Link: https://doi.org/10.1371/..

3

An actionable KCNH2 Long QT Syndrome variant detected by se..:

Kerr, Shona M. ; Klaric, Lucija ; Halachev, Mihail...
Scientific Reports. 9 (2019) 1 - p. , 2019

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

4

Finding Diagnostically Useful Patterns in Quantitative Phen..:

Aitken, Stuart ; Firth, Helen V. ; McRae, Jeremy...
The American Journal of Human Genetics. 105 (2019) 5 - p. 933-946 , 2019

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

5

Flexible and scalable diagnostic filtering of genomic varia..:

Thormann, Anja ; Halachev, Mihail ; McLaren, William...
Nature Communications. 10 (2019) 1 - p. , 2019

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

6

Increased ultra-rare variant load in an isolated Scottish p..:

Halachev, Mihail ; Meynert, Alison ; Taylor, Martin S....
PLOS Genetics. 15 (2019) 11 - p. e1008480 , 2019

Link: https://doi.org/10.1371/..

7

ITPase deficiency causes a Martsolf-like syndrome with a le..:

Handley, Mark T. ; Reddy, Kaalak ; Wills, Jimi...
PLOS Genetics. 15 (2019) 3 - p. e1007605 , 2019

Link: https://doi.org/10.1371/..

8

A recurrent de novo mutation inACTG1causes isolated ocular ..:

Rainger, Joe ; Williamson, Kathleen A ; Soares, Dinesh C...
Human Mutation. 38 (2017) 8 - p. 942-946 , 2017

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

9

Corrigendum: Mutations in genes encoding condensins cause m..:

Martin, Carol-Anne ; Murray, Jennie E. ; Carroll, Paula...
Genes & Development. 31 (2017) 9 - p. 953-953 , 2017

Link: https://doi.org/10.1101/..

10

Mutations in genes encoding condensin complex proteins caus..:

Martin, Carol-Anne ; Murray, Jennie E. ; Carroll, Paula...
Genes & Development. 30 (2016) 19 - p. 2158-2172 , 2016

Link: https://doi.org/10.1101/..

11

TRAIP promotes DNA damage response during genome replicatio..:

Harley, Margaret E ; Murina, Olga ; Leitch, Andrea...
Nature Genetics. 48 (2015) 1 - p. 36-43 , 2015

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

12

Exact match search in sequence data using suffix trees:

, In: Proceedings of the 14th ACM international conference on Information and knowledge management,

Halachev, Mihail ; Shiri, Nematollaah ; Thamildurai, Anand - p. 123-130 , 2005

Link: https://dl.acm.org/doi/1..

13

Fast Structured Motif Search in DNA Sequences:

, In: Communications in Computer and Information Science; Bioinformatics Research and Development,

Halachev, Mihail ; Shiri, Nematollaah - p. 58-73 ,

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

14

Searching for Supermaximal Repeats in Large DNA Sequences:

, In: Communications in Computer and Information Science; Bioinformatics Research and Development,

Lian, Chen Na ; Halachev, Mihail ; Shiri, Nematollaah - p. 87-101 ,

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

15

HEATR2 Plays a Conserved Role in Assembly of the Ciliary Mo..:

Diggle, Christine P. ; Moore, Daniel J. ; Mali, Girish...
PLoS Genetics. 10 (2014) 9 - p. e1004577 , 2014

Link: https://doi.org/10.1371/..