E-LIB Suche - Ergebnisse für: Rausell, Antonio

1

The phenotype of MEGF8-related Carpenter syndrome (CRPT2) i..:

Watts, Laura M. ; Bertoli, Marta ; Attie-Bitach, Tania...
European Journal of Human Genetics. 32 (2024) 7 - p. 864-870 , 2024

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

2

Meta-analysis of single-cell and single-nucleus transcripto..:

Quatredeniers, Marceau ; Serafin, Alice S. ; Benmerah, Alexandre...
Scientific Data. 10 (2023) 1 - p. , 2023

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

3

A non-coding variant in the Kozak sequence of RARS2 strongl..:

Nicolle, Romain ; Altin, Nami ; Siquier-Pernet, Karine...
BMC Medical Genomics. 16 (2023) 1 - p. , 2023

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

4

Severe hematopoietic stem cell inflammation compromises chr..:

Sobrino, Steicy ; Magnani, Alessandra ; Semeraro, Michaela...
Cell Reports Medicine. 4 (2023) 2 - p. 100919 , 2023

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

5

Investigating genotype‐to‐phenotype correlation in CHARGE s..:

Dana, Jérémy ; Dorval, Guillaume ; Martin, Christine Saint...
Clinical Genetics. 104 (2023) 4 - p. 466-471 , 2023

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

6

Integrative genetic and immune cell analysis of plasma prot..:

Caron, Barthelemy ; Patin, Etienne ; Rotival, Maxime...
Genome Medicine. 14 (2022) 1 - p. , 2022

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

7

A DL-4- and TNFα-based culture system to generate high numb..:

Moirangthem, Ranjita Devi ; Ma, Kuiying ; Lizot, Sabrina...
Cellular & Molecular Immunology. 18 (2021) 7 - p. 1662-1676 , 2021

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

8

CNVxplorer: a web tool to assist clinical interpretation of..:

Requena, Francisco ; Abdallah, Hamza Hadj ; García, Alejandro...
Nucleic Acids Research. 49 (2021) W1 - p. W93-W103 , 2021

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

9

Gene signature extraction and cell identity recognition at ..:

Cortal, Akira ; Martignetti, Loredana ; Six, Emmanuelle.
Nature Biotechnology. 39 (2021) 9 - p. 1095-1102 , 2021

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

10

Common homozygosity for predicted loss-of-function variants..:

Rausell, Antonio ; Luo, Yufei ; Lopez, Marie...
Proceedings of the National Academy of Sciences of the United States of America. 117 (2020) 24 - p. 13626-13636 , 2020

Link: https://www.jstor.org/st..

11

Common homozygosity for predicted loss-of-function variants..:

Rausell, Antonio ; Luo, Yufei ; Lopez, Marie...
Proceedings of the National Academy of Sciences. 117 (2020) 24 - p. 13626-13636 , 2020

Link: https://doi.org/10.1073/..

12

NCBoost classifies pathogenic non-coding variants in Mendel..:

Caron, Barthélémy ; Luo, Yufei ; Rausell, Antonio
Genome Biology. 20 (2019) 1 - p. , 2019

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

13

Generation of adult human T-cell progenitors for immunother..:

Simons, Laura ; Ma, Kuiying ; de Chappedelaine, Corinne...
Journal of Allergy and Clinical Immunology. 141 (2018) 4 - p. 1491-1494.e4 , 2018

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

14

What do primary immunodeficiencies tell us about the essent..:

Fischer, Alain ; Rausell, Antonio
Seminars in Immunology. 36 (2018) - p. 13-16 , 2018

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

15

Single-cell analysis identifies cellular markers of the HIV..:

Rato, Sylvie ; Rausell, Antonio ; Muñoz, Miguel...
PLOS Pathogens. 13 (2017) 10 - p. e1006678 , 2017

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