E-LIB Suche - Ergebnisse für: Lauffer, Peter

1

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

Kleinendorst, Lotte ; Abawi, Ozair ; Vos, Niels...
Clinical Obesity. , 2024

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

2

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/..

3

Menke-Hennekam syndrome; delineation of domain-specific sub..:

Haghshenas, Sadegheh ; Bout, Hidde J. ; Schijns, Josephine M....
Human Genetics and Genomics Advances. 5 (2024) 3 - p. 100287 , 2024

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

4

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/..

5

Peripheral Blood DNA Methylation Signatures and Response to..:

Joustra, Vincent ; Li Yim, Andrew Y F ; van Gennep, Sara...
Journal of Crohn's and Colitis. , 2023

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

6

Expression Quantitative Trait Methylation Analysis Identifi..:

Krzyzewska, Izabela M. ; Lauffer, Peter ; Mul, Adri N....
International Journal of Molecular Sciences. 24 (2023) 7 - p. 6601 , 2023

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

7

DNA methylation episignature and comparative epigenomic pro..:

Rooney, Kathleen ; van der Laan, Liselot ; Trajkova, Slavica...
Genetics in Medicine. 25 (2023) 8 - p. 100871 , 2023

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

8

An animal model for Pierpont syndrome: a mouse bearing the ..:

Hu, Yalan ; Lauffer, Peter ; Stewart, Michelle...
Human Molecular Genetics. 31 (2022) 17 - p. 2951-2963 , 2022

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

9

Episignature Mapping of TRIP12 Provides Functional Insight ..:

van der Laan, Liselot ; Rooney, Kathleen ; Alders, Mariëlle...
International Journal of Molecular Sciences. 23 (2022) 22 - p. 13664 , 2022

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

10

Broadening the Spectrum of Loss-of-Function Variants in NPR..:

Lauffer, Peter ; Boudin, Eveline ; van der Kaay, Daniëlle C M...
Journal of the Endocrine Society. 6 (2022) 4 - p. , 2022

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

11

Growth charts for Marfan syndrome in the Netherlands and an..:

Lauffer, Peter ; Pals, Gerard ; Zwinderman, Aeilko H....
American Journal of Medical Genetics Part A. 191 (2022) 2 - p. 479-489 , 2022

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

12

Low free thyroxine and normal thyroid-stimulating hormone i..:

Lauffer, Peter ; van Trotsenburg, A. S. Paul ; Zwaveling-Soonawala, Nitash
European Journal of Pediatrics. 180 (2021) 7 - p. 2333-2338 , 2021

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

13

Diagnosis and Management of Central Congenital Hypothyroidi..:

Lauffer, Peter ; Zwaveling-Soonawala, Nitash ; Naafs, Jolanda C...
Frontiers in Endocrinology. 12 (2021) - p. , 2021

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

14

An Activating Deletion Variant in the Submembrane Region of..:

Lauffer, Peter ; Miranda-Laferte, Erick ; van Duyvenvoorde, Hermine A...
The Journal of Clinical Endocrinology & Metabolism. 105 (2020) 7 - p. 2354-2366 , 2020

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

15

Reforming the male Tanner genital scale:

Lauffer, Peter ; Mooij, Christiaan F. ; Zwaveling-Soonawala, Nitash.
Journal of Pediatric Endocrinology and Metabolism. 33 (2020) 3 - p. 425-426 , 2020

Link: https://doi.org/10.1515/..