E-LIB Suche - Ergebnisse für: Martin-Toutain, Isabelle

1

Biallelic USP14 variants cause a syndromic neurodevelopment..:

Ebstein, Frédéric ; Latypova, Xenia ; Sharon Hung, Ka Ying...
Genetics in Medicine. 26 (2024) 6 - p. 101120 , 2024

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

2

HGG-13. INFANT-TYPE HEMISPHERIC GLIOMA (IHG): AN INDIVIDUAL..:

Chavaz, Lara ; Bagchi, Aditi ; Toutain, Fabienne...
Neuro-Oncology. 26 (2024) Supplement_4 - p. 0-0 , 2024

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

3

The RELIVE consortium for relapsed or refractory pediatric ..:

O'Neill, Allison F. ; Trobaugh-Lotrario, Angela ; Geller, James I....
eClinicalMedicine. 69 (2024) - p. 102446 , 2024

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

4

PSMD11 loss-of-function variants correlate with a neurobeha..:

Deb, Wallid ; Rosenfelt, Cory ; Vignard, Virginie...
The American Journal of Human Genetics. , 2024

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

5

French National Diagnostic and Care Protocol for antiphosph..:

Amoura, Z. ; Bader-Meunier, B. ; BAL dit Sollier, C....
La Revue de Médecine Interne. 44 (2023) 9 - p. 495-520 , 2023

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

6

Surgery in rare bleeding disorders: the prospective MARACHI..:

Rousseau, Florence ; Guillet, Benoit ; Mura, Thibault...
Research and Practice in Thrombosis and Haemostasis. 7 (2023) 7 - p. 102199 , 2023

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

7

Surgery in rare bleeding disorders: the prospective MARACHI..:

Rousseau, Florence ; Guillet, Benoit ; Mura, Thibault...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10585326/. , 2023

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

8

Amelogenesis imperfecta: Next-generation sequencing sheds l..:

Agnes Bloch-Zupan ; Tristan Rey ; Alexandra Jimenez-Armijo...
https://www.frontiersin.org/articles/10.3389/fphys.2023.1130175/full. , 2023

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

9

A new case of Kaufman Oculocerebrofacial syndrome caused by..:

Couloigner, Loïc ; Planes, Marc ; Ka, Chandran...
Clinical Genetics. 103 (2022) 3 - p. 377-379 , 2022

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

10

A Large Impact of Obesity on the Disposition of Ivermectin,..:

Bousquet-Mélou, Alain ; Lespine, Anne ; Sutra, Jean-François..
Frontiers in Pharmacology. 12 (2021) - p. , 2021

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

11

Antiphospholipid antibodies and thrombotic events in COVID-..:

Le Joncour, Alexandre ; Frere, Corinne ; Martin-Toutain, Isabelle...
Autoimmunity Reviews. 20 (2021) 2 - p. 102729 , 2021

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

12

Mutation-Specific Guide RNA for Compound Heterozygous Porph..:

Prat, Florence ; Toutain, Jérôme ; Boutin, Julian...
Stem Cell Reports. 15 (2020) 3 - p. 677-693 , 2020

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

13

A novel pathogenic variant in DYNC1H1 causes various upper ..:

Viollet, Louis M. ; Swoboda, Kathryn J. ; Mao, Rong...
European Journal of Medical Genetics. 63 (2020) 12 - p. 104063 , 2020

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

14

Psychosocial Impact of Predictive Genetic Testing in Heredi..:

Bordet, Céline ; Brice, Sandrine ; Maupain, Carole...
Journal of Clinical Medicine. 9 (2020) 5 - p. 1365 , 2020

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

15

Heparin-induced thrombocytopenia in COVID-19 patients with ..:

Bidar, Frank ; Hékimian, Guillaume ; Martin-Toutain, Isabelle...
Journal of Artificial Organs. 24 (2020) 2 - p. 277-281 , 2020

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