E-LIB Suche - Ergebnisse für: Blouin, Jean-Louis

1

Enhancing fetal outcomes in GCK-MODY pregnancies: a precisi..:

Schwitzgebel, Valérie M. ; Blouin, Jean-Louis ; Dehos, Barbara...
Frontiers in Medicine. 11 (2024) - p. , 2024

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

2

Atypical diabetes with spontaneous remission associated wit..:

Luterbacher, Fanny ; Blouin, Jean-Louis ; Schwitzgebel, Valerie M.
BMC Endocrine Disorders. 23 (2023) 1 - p. , 2023

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

3

A peripheral signature of Alzheimer's disease featuring mic..:

Marizzoni, Moira ; Mirabelli, Peppino ; Mombelli, Elisa...
Alzheimer's Research & Therapy. 15 (2023) 1 - p. , 2023

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

4

Substitution of arginine 219 by glycine compromises stabili..:

Zgheib, Omar ; Chamchoy, Kamonwan ; Nouspikel, Thierry...
Communications Biology. 6 (2023) 1 - p. , 2023

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

5

Phäochromozytom während der Schwangerschaft:

Huppermans, Cynthia Janine ; Minder, AnnaElisabeth ; Frischknecht, Lukas...
Swiss Medical Forum ‒ Schweizerisches Medizin-Forum. , 2023

Link: https://doi.org/10.4414/..

6

Phéochromocytome pendant la grossesse:

Huppermans, Cynthia Janine ; Minder, AnnaElisabeth ; Frischknecht, Lukas...
Forum Médical Suisse ‒ Swiss Medical Forum. , 2023

Link: https://doi.org/10.4414/..

7

Co-segregation analysis and functional trial in vivo of can..:

Stankute, Ingrida ; Kazlauskiene, Mintaute ; Blouin, Jean-Louis..
BMJ Open Diabetes Research & Care. 10 (2022) 6 - p. e003038 , 2022

Link: https://doi.org/10.1136/..

8

Loss of Nexmif results in the expression of phenotypic vari..:

Stekelenburg, Caroline ; Blouin, Jean-Louis ; Santoni, Federico...
Scientific Reports. 12 (2022) 1 - p. , 2022

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

9

Novel NEXMIF pathogenic variant in a boy with severe autist..:

Lambert, Nelle ; Dauve, Corinne ; Ranza, Emmanuelle...
Journal of Human Genetics. 63 (2018) 7 - p. 847-850 , 2018

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

10

Circulating tumoral DNA: Preanalytical validation and quali..:

Nikolaev, Sergey ; Lemmens, Laure ; Koessler, Thibaud..
Analytical Biochemistry. 542 (2018) - p. 34-39 , 2018

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

11

Precision medicine for monogenic diabetes: from a survey to..:

Kherra, Sakina ; Blouin, Jean-Louis ; Santoni, Federico.
Swiss Medical Weekly. , 2017

Link: https://doi.org/10.4414/..

12

Pure interstitial dup(6)(q22.31q22.31) – a case report:

Sheth, Frenny ; Trivedi, Sunil ; Andrieux, Joris..
Italian Journal of Pediatrics. 41 (2015) 1 - p. , 2015

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

13

Next generation diagnostics on cardiomyopathy:

Blouin, Jean-Louis ; Bevillard, Jeremy ; Makrythanasis, Periklis...
Molecular Cytogenetics. 7 (2014) Suppl 1 - p. I4 , 2014

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

14

Diabetes and immune thrombocytopenic purpura: a new associa..:

von Laer Tschudin, Letizia ; Schwitzgebel, Valérie M. ; von Scheven-Gête, Annette...
Pediatric Diabetes. 16 (2014) 2 - p. 138-145 , 2014

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

15

Mutations in ZMYND10, a Gene Essential for Proper Axonemal ..:

Moore, Daniel J. ; Onoufriadis, Alexandros ; Shoemark, Amelia...
The American Journal of Human Genetics. 93 (2013) 2 - p. 346-356 , 2013

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