E-LIB Suche - Ergebnisse für: Griffin, Helen

1

A de novo TLR7 gain-of-function mutation causing severe mon..:

Stremenova Spegarova, Jarmila ; Sinnappurajar, Praisoody ; Al Julandani, Dalila...
Journal of Clinical Investigation. 134 (2024) 13 - p. , 2024

Link: https://doi.org/10.1172/..

2

Expanding the PRAAS spectrum: De novo mutations of immunopr..:

van der Made, Caspar I. ; Kersten, Simone ; Chorin, Odelia...
The American Journal of Human Genetics. 111 (2024) 4 - p. 791-804 , 2024

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

3

Omenn Syndrome in Two Infants with Different Hypomorphic Va..:

Tsilifis, Christo ; Spegarova, Jarmila Stremenova ; Good, Ross...
Journal of Clinical Immunology. 44 (2024) 4 - p. , 2024

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

4

Aberrant inflammatory responses to type I interferon in STA..:

Gothe, Florian ; Stremenova Spegarova, Jarmila ; Hatton, Catherine F....
Journal of Allergy and Clinical Immunology. 150 (2022) 4 - p. 955-964.e16 , 2022

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

5

Heteroplasmic mitochondrial DNA variants in cardiovascular ..:

Calabrese, Claudia ; Pyle, Angela ; Griffin, Helen...
PLOS Genetics. 18 (2022) 4 - p. e1010068 , 2022

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

6

A Whole-School Approach to Gender Equality: Rationale and C..:

, In: Gender Equality and Stereotyping in Secondary Schools; Palgrave Studies in Gender and Education,

Griffin, Helen ; Rédai, Dorottya ; Guerrini, Valentina - p. 1-35 , 2021

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

7

Exome reanalysis and proteomic profiling identified TRIP4 a..:

Töpf, Ana ; Pyle, Angela ; Griffin, Helen...
European Journal of Human Genetics. 29 (2021) 9 - p. 1348-1353 , 2021

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

8

RNA exosome mutations in pontocerebellar hypoplasia alter r..:

Müller, Juliane S ; Burns, David T ; Griffin, Helen...
Life Science Alliance. 3 (2020) 8 - p. e202000678 , 2020

Link: https://doi.org/10.26508..

9

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause N..:

Manole, Andreea ; Efthymiou, Stephanie ; O'Connor, Emer...
The American Journal of Human Genetics. 107 (2020) 2 - p. 311-324 , 2020

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

10

Metabolic shift underlies recovery in reversible infantile ..:

Hathazi, Denisa ; Griffin, Helen ; Jennings, Matthew J...
The EMBO Journal. 39 (2020) 23 - p. , 2020

Link: https://doi.org/10.15252..

11

Assessing mitochondrial heteroplasmy using next generation ..:

Santibanez-Koref, Mauro ; Griffin, Helen ; Turnbull, Douglass M....
Mitochondrion. 46 (2019) - p. 302-306 , 2019

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

12

Mutations in glycyl-tRNA synthetase impair mitochondrial me..:

Boczonadi, Veronika ; Meyer, Kathrin ; Gonczarowska-Jorge, Humberto...
Human Molecular Genetics. 27 (2018) 12 - p. 2187-2204 , 2018

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

13

Gender Equality in Primary Schools: a Guide for Teachers:

Griffin, Helen , 2018

Link: https://search.ebscohost..

14

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Ce..:

Burns, David T. ; Donkervoort, Sandra ; Müller, Juliane S....
The American Journal of Human Genetics. 102 (2018) 5 - p. 858-873 , 2018

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

15

Mitochondrial oxodicarboxylate carrier deficiency is associ..:

Boczonadi, Veronika ; King, Martin S. ; Smith, Anthony C....
Genetics in Medicine. 20 (2018) 10 - p. 1224-1235 , 2018

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