E-LIB Suche - Ergebnisse für: Martin, Renan

1

P669: VariantMatcher: A tool to enable connections amongst ..:

Sobreira, Nara ; Griffith, Sean ; Antonescu, Corina...
Genetics in Medicine Open. 1 (2023) 1 - p. 100734 , 2023

2

De novo variants identified by trio whole exome sequencing ..:

Jelin, Angie C. ; Wohler, Elizabeth ; Martin, Renan...
American Journal of Medical Genetics Part A. 194 (2023) 4 - p. , 2023

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

3

Disruption of the HIF-1 pathway in individuals with Ollier ..:

Poll, Sarah R. ; Martin, Renan ; Wohler, Elizabeth...
PLOS Genetics. 18 (2022) 12 - p. e1010504 , 2022

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

4

The impact of GeneMatcher on international data sharing and..:

Hamosh, Ada ; Wohler, Elizabeth ; Martin, Renan...
Human Mutation. , 2022

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

5

Variant‐level matching for diagnosis and discovery: Challen..:

Rodrigues, Eliete da S. ; Griffith, Sean ; Martin, Renan...
Human Mutation. , 2022

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

6

Germline ERBB2/HER2 Coding Variants Are Associated with Inc..:

Braunstein, Evan M. ; Chen, Hang ; Juarez, Felicia...
Cancers. 13 (2021) 13 - p. 3246 , 2021

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

7

PhenoDB, GeneMatcher and VariantMatcher, tools for analysis..:

Wohler, Elizabeth ; Martin, Renan ; Griffith, Sean...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

8

IFIH1 loss-of-function variants contribute to very early-on..:

Cananzi, Mara ; Wohler, Elizabeth ; Marzollo, Antonio...
Human Genetics. 140 (2021) 9 - p. 1299-1312 , 2021

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

9

KIAA1217: A novel candidate gene associated with isolated a..:

Al Dhaheri, Noura ; Wu, Nan ; Zhao, Sen...
American Journal of Medical Genetics Part A. 182 (2020) 7 - p. 1664-1672 , 2020

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

10

Pathogenicity Reclassification of RPE65 Missense Variants R..:

Motta, Fabiana ; Martin, Renan ; Porto, Fernanda...
Genes. 11 (2019) 1 - p. 24 , 2019

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

11

MBRS-38. IDENTIFYING THE MOST FREQUENT VARIANTS IN PEDIATRI..:

Mascaro-Cordeiro, Bruna ; Oliveira, Indhira ; Santos, Leonardo...
Neuro-Oncology. 20 (2018) suppl_2 - p. i136-i136 , 2018

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

12

An observational human study investigating the effect of an..:

Kolliari-Turner, Alexander ; Lima, Giscard ; Wang, Guan...
BMC Medical Genomics. 16 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

13

Tenascin C down regulation in a neuron model of Fabry disea..:

Varela-Calais, Patricia ; Martin, Renan Paulo ; Budu, Alexandre..
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S123 , 2022

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

14

ROLE OF BRAIN EXTRACELLULAR MATRIX GLYCOPROTEINS IN THE PSY..:

Varela-Calais, Patrícia ; Martin, Renan Paulo ; Martins, Ana Maria...
European Neuropsychopharmacology. 63 (2022) - p. e284-e285 , 2022

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

15

Integrating Whole Blood Transcriptomic Collection Procedure..:

Lima, Giscard ; Kolliari-Turner, Alexander ; Malinsky, Fernanda Rossell...
Frontiers in Molecular Biosciences. 8 (2021) - p. , 2021

Link: https://doi.org/10.3389/..