E-LIB Suche - Ergebnisse für: Huet, Frédéric

1

Further description of two individuals with de novo p.(Glu1..:

Malbos, Marlène ; Wakeling, Emma ; Gautier, Thierry...
Clinical Genetics. 105 (2024) 5 - p. 555-560 , 2024

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

2

Subcutaneous anakinra in the management of refractory MIS-C..:

Dusser, Perrine ; Belot, Alexandre ; Bajolle, Fanny...
Frontiers in Pediatrics. 12 (2024) - p. , 2024

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

3

Behavioural and sleep issues after initiation of elexacafto..:

Sermet-Gaudelus, I ; Benaboud, Sihem ; Bui, Stéphanie...
The Lancet. 404 (2024) 10448 - p. 117-120 , 2024

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

4

Children Hospitalized With Respiratory Syncytial Virus Infe..:

Solus, Astrid ; Huet, Frederic ; Perez-Martin, Stephanie...
Pediatric Infectious Disease Journal. 43 (2023) 3 - p. e110-e113 , 2023

Link: https://doi.org/10.1097/..

5

Long‐term follow‐up of 64 children with classical infantile..:

Tardieu, Marine ; Cudejko, Céline ; Cano, Aline...
European Journal of Neurology. 30 (2023) 9 - p. 2828-2837 , 2023

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

6

Changes in the clinical management of 5α-reductase type 2 a..:

Bonnet, Estelle ; Winter, Mathias ; Mallet, Delphine...
Endocrine Connections. 12 (2023) 3 - p. , 2023

Link: https://doi.org/10.1530/..

7

Hepatitis‐associated Aplastic Anemia:

Gonnot, Maxime ; Neumann, Florent ; Huet, Frédéric...
Journal of Pediatric Gastroenterology and Nutrition. 75 (2022) 5 - p. 553-555 , 2022

Link: https://doi.org/10.1097/..

8

The diagnostic rate of inherited metabolic disorders by exo..:

Delanne, Julian ; Bruel, Ange-Line ; Huet, Frédéric...
Molecular Genetics and Metabolism Reports. 29 (2021) - p. 100812 , 2021

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

9

Correction to: Real-World Long-Term Ivacaftor for Cystic Fi..:

Hubert, Dominique ; Marguet, Christophe ; Benichou, Jacques...
Pulmonary Therapy. 7 (2021) 2 - p. 469-470 , 2021

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

10

Chest physiotherapy enhances detection of Pseudomonas aerug..:

Marguet, Christophe ; Houdouin, Véronique ; Pin, Isabelle...
ERJ Open Research. 7 (2021) 1 - p. 00513-2020 , 2021

Link: https://doi.org/10.1183/..

11

Associations between cognitive performance and the rehabili..:

Roux-Levy, Pierre-Henri ; Bournez, Marie ; Masurel, Alice...
European Journal of Medical Genetics. 63 (2020) 12 - p. 104064 , 2020

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

12

Compassionate use of everolimus for refractory epilepsy in ..:

Hadouiri, Nawale ; Darmency, Veronique ; Guibaud, Laurent...
European Journal of Medical Genetics. 63 (2020) 11 - p. 104036 , 2020

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

13

Hearing impairment as an early sign of alpha‐mannosidosis i..:

Lehalle, Daphné ; Colombo, Roberto ; O'Grady, Michael...
American Journal of Medical Genetics Part A. 179 (2019) 9 - p. 1756-1763 , 2019

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

14

Reducing diagnostic turnaround times of exome sequencing fo..:

Bourchany, Aurélie ; Thauvin-Robinet, Christel ; Lehalle, Daphné...
European Journal of Medical Genetics. 60 (2017) 11 - p. 595-604 , 2017

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

15

Randomised controlled trial demonstrates that fermented inf..:

Vandenplas, Yvan ; Ludwig, Thomas ; Bouritius, Hetty...
Acta Paediatrica. 106 (2017) 7 - p. 1150-1158 , 2017

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