E-LIB Suche - Ergebnisse für: Fanjul-Fernández, Miriam

1

A family study implicates GBE1 in the etiology of autism sp..:

Fanjul-Fernández, Miriam ; Brown, Natasha J ; Hickey, Peter...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8720068/. , 2021

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

2

Genetic heterogeneity of polymicrogyria: study of 123 patie..:

Stutterd, Chloe A ; Brock, Stefanie ; Stouffs, Katrien...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7878248/. , 2020

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

3

A head-to-head evaluation of the diagnostic efficacy and co..:

Tan, Tiong Yang ; Lunke, Sebastian ; Chong, Belinda...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6871178/. , 2019

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

4

Clinical Spectrum and Functional Consequences Associated wi..:

Rius, Rocio ; Van Bergen, Nicole J ; Compton, Alison G...
Rius , R , Van Bergen , N J , Compton , A G , Riley , L G , Kava , M P , Balasubramaniam , S , Amor , D J , Fanjul-Fernández , M , Cowley , M J , Fahey , M C , Koenig , M K , Enns , G M , Sadedin , S P , Wilson , M J , Tan , T Y , Thorburn , D R & Christodoulou , J 2019 , ' Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants ' , Journal of Clinical Medicine , vol. 8 , no. 11 , 2020 . https://doi.org/10.3390/jcm8112020. , 2019

Link: https://research.monash...

5

Clinical Spectrum and Functional Consequences Associated wi..:

Rius, Rocio ; Van Bergen, Nicole J ; Compton, Alison G...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6912252/. , 2019

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

6

Matrix metalloproteinase Mmp-1a is dispensable for normal g..:

Fanjul-Fernández, Miriam ; Folgueras, Alicia R ; Fueyo, Antonio...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6066299/. , 2018

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

7

Collagenase-2 deficiency or inhibition impairs experimental..:

Folgueras, Alicia R ; Fueyo, Antonio ; García-Suárez, Olivia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6066305/. , 2018

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

8

Matrix Metalloprotease 1a-Deficiency Suppresses Tumor Growt..:

Foley, Caitlin J ; Fanjul-Fernández, Miriam ; Bohm, Andrew...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC. , 2013

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

9

Matrix Metalloproteinase Mmp-1a Is Dispensable for Normal G..:

Fanjul-Fernández, Miriam ; Folgueras, Alicia R ; Fueyo, Antonio...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC. , 2013

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

10

Exome Sequencing and Functional Analysis Identifies BANF1 M..:

Puente, Xose S ; Quesada, Victor ; Osorio, Fernando G...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3146734. , 2011

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

11

Evaluating systematic reanalysis of clinical genomic data i..:

Natalie B. Tan ; Rachel Stapleton ; Zornitza Stark...
https://doi.org/10.1002/mgg3.1508. , 2020

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

12

Clinical Spectrum and Functional Consequences Associated wi..:

Rocio Rius ; Nicole J. Van Bergen ; Alison G. Compton...
https://www.mdpi.com/2077-0383/8/11/2020. , 2019

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

13

Clinical Spectrum and Functional Consequences Associated wi..:

Rocio Rius ; Nicole J. Van Bergen ; Alison G. Compton...
Immunology. , 2019

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

14

Generation of seven iPSC lines from peripheral blood mononu..:

Kiymet Bozaoglu ; Yujing Gao ; Edouard Stanley...
http://www.sciencedirect.com/science/article/pii/S1873506119301461. , 2019

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

15

Cerebral hypomyelination associated with biallelic variants..:

Lenk, Guy M ; Berry, Ian R ; Stutterd, Chloe A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467804/. , 2019

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