E-LIB Suche - Ergebnisse für: Delon, Isabelle

1

Refinements and considerations for trio whole-genome sequen..:

French, Courtney E. ; Dolling, Helen ; Mégy, Karyn...
Human Genetics and Genomics Advances. 3 (2022) 3 - p. 100113 , 2022

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

2

A clinical, molecular genetics and pathological study of a ..:

Olszewska, Diana A. ; Fearon, Conor ; McGuigan, Christopher...
Neurobiology of Aging. 106 (2021) - p. 343.e1-343.e8 , 2021

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

3

Spinal muscular atrophy diagnosis and carrier screening fro..:

Chen, Xiao ; Sanchis-Juan, Alba ; French, Courtney E....
Genetics in Medicine. 22 (2020) 5 - p. 945-953 , 2020

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

4

Whole genome sequencing reveals that genetic conditions are..:

NIHR BioResource—Rare Disease ; French, Courtney E. ; Delon, Isabelle...
Intensive Care Medicine. 45 (2019) 5 - p. 627-636 , 2019

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

5

The second clinical-pathological study of a FTDP-17 family ..:

Olszewska, Diana Angelika ; McGuigan, Christopher ; Houlden, Henry...
Neurology. 92 (2019) 15_supplement - p. , 2019

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

6

Complex structural variants in Mendelian disorders: identif..:

Sanchis-Juan, Alba ; Stephens, Jonathan ; French, Courtney E....
Genome Medicine. 10 (2018) 1 - p. , 2018

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

7

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-..:

Alston, Charlotte L. ; Heidler, Juliana ; Dibley, Marris G....
The American Journal of Human Genetics. 103 (2018) 4 - p. 592-601 , 2018

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

8

Male child with somatic mosaic Osteopathia Striata with Cra..:

Hague, Jennifer ; Delon, Isabelle ; Brugger, Kim...
American Journal of Medical Genetics Part A. 173 (2017) 7 - p. 1931-1935 , 2017

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

9

Molecularly proven mosaicism in phenotypically normal paren..:

Hague, Jennifer ; Delon, Isabelle ; Brugger, Kim...
American Journal of Medical Genetics Part A. 170 (2016) 6 - p. 1608-1612 , 2016

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

10

Closing the tau loop: the missing tau mutation:

McCarthy, Allan ; Lonergan, Roisin ; Olszewska, Diana A....
Brain. 138 (2015) 10 - p. 3100-3109 , 2015

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

11

Malignant Peripheral Nerve Sheath Tumor in Cowden Syndrome:..:

Taylor, Amy ; Delon, Isabelle ; Allinson, Kieren...
Journal of Neuropathology & Experimental Neurology. 74 (2015) 4 - p. 288-292 , 2015

Link: https://doi.org/10.1097/..

12

Cell–Matrix Adhesion: The Wech Connection:

Delon, Isabelle ; Brown, Nick
Current Biology. 18 (2008) 9 - p. R389-R391 , 2008

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

13

Evolution of the Drosophila larval trichome pattern through..:

Davis, Gregory K. ; Sillers, Laura ; Parikh, Purak...
Developmental Biology. 319 (2008) 2 - p. 495 , 2008

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

14

Morphological evolution through multiple cis-regulatory mut..:

McGregor, Alistair P. ; Orgogozo, Virginie ; Delon, Isabelle...
Nature. 448 (2007) 7153 - p. 587-590 , 2007

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

15

Integrins and the actin cytoskeleton:

Delon, Isabelle ; Brown, Nicholas H
Current Opinion in Cell Biology. 19 (2007) 1 - p. 43-50 , 2007

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