E-LIB Suche - Ergebnisse für: van Haelst, Mieke M.

1

Novel loss-of-function variants expand ABCC9-related intell..:

Efthymiou, Stephanie ; Scala, Marcello ; Nagaraj, Vini...
Brain. 147 (2024) 5 - p. 1822-1836 , 2024

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

2

Evaluation of 100 Dutch cases with 16p11.2 deletion and dup..:

Vos, Niels ; Kleinendorst, Lotte ; van der Laan, Liselot...
European Journal of Human Genetics. , 2024

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

3

Novel PUF60 variant suggesting an interaction between Verhe..:

Hoogenboom, Amarens ; Falix, Farah A. ; van der Laan, Liselot...
European Journal of Human Genetics. 32 (2024) 4 - p. 435-439 , 2024

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

4

Treatment with liraglutide or naltrexone-bupropion in patie..:

Welling, Mila S. ; de Groot, Cornelis J. ; Mohseni, Mostafa...
eClinicalMedicine. 74 (2024) - p. 102709 , 2024

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

5

Dementia in Rare Genetic Neurodevelopmental Disorders: A Sy..:

Kwetsie, Hadassa ; van Schaijk, Malu ; Van Der Lee, Sven...
Neurology. 102 (2024) 11 - p. , 2024

Link: https://doi.org/10.1212/..

6

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

Deb, Wallid ; Rosenfelt, Cory ; Vignard, Virginie...
The American Journal of Human Genetics. 111 (2024) 7 - p. 1352-1369 , 2024

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

7

GNB1 and obesity: Evidence for a correlation between haploi..:

Kleinendorst, Lotte ; Abawi, Ozair ; Vos, Niels...
Clinical Obesity. 14 (2024) 4 - p. , 2024

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

8

Clinical phenotypes of adults with monogenic and syndromic ..:

Welling, Mila S. ; Mohseni, Mostafa ; Meeusen, Renate E. H....
Obesity. 32 (2024) 7 - p. 1257-1267 , 2024

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

9

DNA methylation episignature and comparative epigenomic pro..:

van der Laan, Liselot ; Lauffer, Peter ; Rooney, Kathleen...
Human Genetics and Genomics Advances. 5 (2024) 3 - p. 100289 , 2024

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

10

DNA methylation episignature, extension of the clinical fea..:

van der Laan, Liselot ; Karimi, Karim ; Rooney, Kathleen...
Genetics in Medicine. 26 (2024) 3 - p. 101050 , 2024

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

11

MC4R Variants Modulate α-MSH and Setmelanotide Induced Cell..:

Rodríguez Rondón, Alejandra V ; Welling, Mila S ; van den Akker, Erica L T...
The Journal of Clinical Endocrinology & Metabolism. , 2024

Link: https://doi.org/10.1210/..

12

Genetic Obesity Disorders: Body Mass Index Trajectories and..:

Abawi, Ozair ; Wahab, Rama J. ; Kleinendorst, Lotte...
The Journal of Pediatrics. 262 (2023) - p. 113619 , 2023

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

13

The Narrative of a Patient with Leptin Receptor Deficiency:..:

Welling, Mila S. ; Kleinendorst, Lotte ; van Haelst, Mieke M..
Obesity Facts. 16 (2023) 5 - p. 514-518 , 2023

Link: https://doi.org/10.1159/..

14

Data driven criteria for genetic testing result in an effic..:

Lee, Sven J ; Hulsman, Marc ; van Spaendonk, Rosalina M.L....
Alzheimer's & Dementia. 19 (2023) S12 - p. , 2023

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

15

FRI046 Clinical Phenotyping Of Adults With Genetic Obesity:

Welling, Mila Sofie ; Mohseni, Mostafa ; Meeusen, Renate E H...
Journal of the Endocrine Society. 7 (2023) Supplement_1 - p. , 2023

Link: https://doi.org/10.1210/..