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

1

A founder variant expands the phenotype of WNT7B‐related PD..:

AlAbdi, Lama ; Rahbeeni, Zuhair ; Maddirevula, Sateesh...
Clinical Genetics. 106 (2024) 1 - p. 66-71 , 2024

Link: https://doi.org/10.1111/..

2

Genome sequencing enables diagnosis and treatment of SLC5A6..:

Riley, Lisa G. ; Sabui, Subrata ; Said, Hamid M....
European Journal of Human Genetics. , 2024

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

3

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

Yap, Patrick ; Riley, Lisa G. ; Kakadia, Purvi M....
European Journal of Human Genetics. 32 (2023) 1 - p. 125-129 , 2023

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

4

Standardized practices for RNA diagnostics using clinically..:

Bournazos, Adam M. ; Riley, Lisa G. ; Bommireddipalli, Shobhana...
Genetics in Medicine. 24 (2022) 1 - p. 130-145 , 2022

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

5

FGF21 outperforms GDF15 as a diagnostic biomarker of mitoch..:

Riley, Lisa G. ; Nafisinia, Michael ; Menezes, Minal J....
Molecular Genetics and Metabolism. 135 (2022) 1 - p. 63-71 , 2022

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

6

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

Chan, Denise L. ; Rudinger-Thirion, Joëlle ; Frugier, Magali...
Brain and Development. 44 (2022) 2 - p. 142-147 , 2022

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

7

LARS2 variants can present as premature ovarian insufficien..:

Neyroud, Anne Sophie ; Rudinger-Thirion, Joëlle ; Frugier, Magali...
European Journal of Human Genetics. 31 (2022) 4 - p. 453-460 , 2022

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

8

Biallelic pathogenic variants inCOX11are associated with an..:

Rius, Rocio ; Bennett, Neal K. ; Bhattacharya, Kaustuv...
Human Mutation. 43 (2022) 12 - p. 1970-1978 , 2022

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

9

Functional interaction between compound heterozygous TERT m..:

Niaz, Aram ; Truong, Jia ; Manoleras, Annabel...
Blood Advances. 6 (2022) 12 - p. 3779-3791 , 2022

Link: https://doi.org/10.1182/..

10

Human iPSC-Derived Retinal Organoids and Retinal Pigment Ep..:

Chahine Karam, Fidelle ; Loi, To Ha ; Ma, Alan...
Journal of Personalized Medicine. 12 (2022) 3 - p. 502 , 2022

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

11

Deleterious variants in CRLS1 lead to cardiolipin deficienc..:

Lee, Richard G ; Balasubramaniam, Shanti ; Stentenbach, Maike...
Human Molecular Genetics. 31 (2022) 21 - p. 3597-3612 , 2022

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

12

A novel RLIM/RNF12 variant disrupts protein stability and f..:

Bustos, Francisco ; Espejo-Serrano, Carmen ; Segarra-Fas, Anna...
Scientific Reports. 11 (2021) 1 - p. , 2021

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

13

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

Zech, Michael ; Kumar, Kishore R. ; Reining, Sophie...
Movement Disorders. 37 (2021) 1 - p. 137-147 , 2021

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

14

The diagnostic utility of genome sequencing in a pediatric ..:

Riley, Lisa G. ; Cowley, Mark J. ; Gayevskiy, Velimir...
Genetics in Medicine. 22 (2020) 7 - p. 1254-1261 , 2020

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

15

The expandingLARS2phenotypic spectrum: HLASA, Perrault synd..:

Riley, Lisa G. ; Rudinger‐Thirion, Joëlle ; Frugier, Magali...
Human Mutation. 41 (2020) 8 - p. 1425-1434 , 2020

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