E-LIB Suche - Ergebnisse für: Riley, Lisa G

1

The phenotypic spectrum of germline YARS2 variants: from is..:

Riley, Lisa G ; Heeney, Matthew M ; Rudinger-Thirion, Joëlle...
Haematologica. , 2024

Link: https://hdl.handle.net/2..

2

Expanding the Allelic Heterogeneity of ANO10-Associated Aut..:

Massey, Sean ; Guo, Yiran ; Riley, Lisa G...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9872716/. , 2023

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

3

LARS2 variants can present as premature ovarian insufficien..:

Neyroud, Anne-Sophie ; Rudinger-Thirion, Joëlle ; Frugier, Magali...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-022-01252-1. , 2023

Link: https://hal.science/hal-..

4

LARS2 variants can present as premature ovarian insufficien..:

Neyroud, Anne-Sophie ; Rudinger-Thirion, Joëlle ; Frugier, Magali...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-022-01252-1. , 2023

Link: https://hal.science/hal-..

5

LARS2 variants can present as premature ovarian insufficien..:

Neyroud, Anne-Sophie ; Rudinger-Thirion, Joëlle ; Frugier, Magali...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-022-01252-1. , 2023

Link: https://hal.science/hal-..

6

Biallelic ATP2B1 variants as a likely cause of a novel neur..:

Yap, Patrick ; Riley, Lisa G ; Kakadia, Purvi M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10772071/. , 2023

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

7

A case of QARS1 associated epileptic encephalopathy and rev..:

Chan, Denise L ; Rudinger-Thirion, J. (Joelle) ; Frugier, M. (Magali)... , 2022

Link: https://linkinghub.elsev..

8

Bi-allelic variants in WNT7B disrupt the development of mul..:

Bouasker, Samir ; Patel, Nisha ; Greenlees, Rebecca...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmedgenet-2022-108475. , 2022

Link: https://u-paris.hal.scie..

9

Biallelic pathogenic variants in COX11 are associated with ..:

Rius, Rocio ; Bennett, Neal K ; Bhattacharya, Kaustuv...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9771894/. , 2022

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

10

Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive..:

Zech, Michael ; Kumar, Kishore, R ; Reining, Sophie...
info:eu-repo/semantics/altIdentifier/doi/10.1002/mds.28804. , 2021

Link: https://hal.sorbonne-uni..

11

Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive..:

Zech, Michael ; Kumar, Kishore, R ; Reining, Sophie...
info:eu-repo/semantics/altIdentifier/doi/10.1002/mds.28804. , 2021

Link: https://hal.sorbonne-uni..

12

The expanding LARS2 phenotypic spectrum: HLASA, Perrault sy..:

Riley, Lisa G ; Rudinger-thirion, J. (Joelle) ; Frugier, M. (Magali)... , 2020

Link: https://onlinelibrary.wi..

13

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...

14

Biallelic variants in LARS2 and KARS cause deafness and (ov..:

van der Knaap, Marjo S ; Bugiani, Marianna ; Mendes, Marisa I...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9281382/. , 2019

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

15

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...