E-LIB Suche - Ergebnisse für: Wade, Emma M.

1

FLNA-filaminopathy skeletal phenotypes are not due to an os..:

Wade, Emma M. ; Goodin, Elizabeth A. ; Wang, Yongqiang...
Bone Reports. 18 (2023) - p. 101668 , 2023

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

2

Intragenic Deletions in FLNB Are Part of the Mutational Spe..:

Fukushima, Kaya ; Parthasarathy, Padmini ; Wade, Emma M....
Genes. 12 (2021) 4 - p. 528 , 2021

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

3

Exon skip‐inducing variants in FLNA in an attenuated form o..:

Wade, Emma M. ; Jenkins, Zandra A. ; Morgan, Tim...
American Journal of Medical Genetics Part A. 185 (2021) 12 - p. 3675-3682 , 2021

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

4

Deletion of the last two exons of FGF10 in a family with LA..:

Wade, Emma M. ; Parthasarathy, Padmini ; Mi, Jingyi...
European Journal of Human Genetics. 30 (2021) 4 - p. 480-484 , 2021

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

5

Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cra..:

Mi, Jingyi ; Parthasarathy, Padmini ; Halliday, Benjamin J....
Genes. 11 (2020) 12 - p. 1439 , 2020

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

6

Fibulin-3 knockout mice demonstrate corneal dysfunction but..:

Daniel, Steffi ; Renwick, Marian ; Chau, Viet Q....
Journal of Molecular Medicine. 98 (2020) 11 - p. 1639-1656 , 2020

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

7

Pathogenic variants causing ABL1 malformation syndrome clus..:

Blakes, Alexander J. M. ; Gaul, Emily ; Lam, Wayne...
European Journal of Human Genetics. 29 (2020) 4 - p. 593-603 , 2020

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

8

The X‐linked filaminopathies: Synergistic insights from cli..:

Wade, Emma M. ; Halliday, Benjamin J. ; Jenkins, Zandra A...
Human Mutation. 41 (2020) 5 - p. 865-883 , 2020

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

9

Insights into the molecular pathogenesis of cardiospondyloc..:

Micale, Lucia ; Morlino, Silvia ; Biagini, Tommaso...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1866 (2020) 6 - p. 165742 , 2020

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

10

Biallelic variants in EFEMP1 in a man with a pronounced con..:

Driver, Sean G. W. ; Jackson, Meremaihi R. ; Richter, Konrad...
European Journal of Human Genetics. 28 (2019) 4 - p. 445-452 , 2019

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

11

TAB2c.1398dup variant leads to haploinsufficiency and impai..:

Morlino, Silvia ; Carbone, Annalucia ; Ritelli, Marco...
Human Mutation. 40 (2019) 10 - p. 1886-1898 , 2019

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

12

Autosomal dominant frontometaphyseal dysplasia: Delineation..:

Wade, Emma M. ; Jenkins, Zandra A. ; Daniel, Philip B....
American Journal of Medical Genetics Part A. 173 (2017) 7 - p. 1739-1746 , 2017

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

13

Frontometaphyseal dysplasia and keloid formation without FL..:

Basart, Hanneke ; van de Kar, Annekatrien ; Adès, Lesley...
American Journal of Medical Genetics Part A. 167 (2015) 6 - p. 1215-1222 , 2015

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

14

FLNA-filaminopathy skeletal phenotypes are not due to an os..:

Wade, Emma M ; Goodin, Elizabeth A ; Wang, Yongqiang...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9995945/. , 2023

Link: http://www.ncbi.nlm.nih...

15

Intragenic Deletions in FLNB Are Part of the Mutational Spe..:

Fukushima, Kaya ; Parthasarathy, Padmini ; Wade, Emma M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8065484/. , 2021

Link: http://www.ncbi.nlm.nih...