E-LIB Suche - Ergebnisse für: Katrien Janssens

1

The impact of confined placental mosaicism on prenatal cell..:

Rosenblum, Jessica ; Blaumeiser, Bettina ; Janssens, Katrien
Placenta. 152 (2024) - p. 17-22 , 2024

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

2

Burden re-analysis of neurodevelopmental disorder cohorts f..:

Smal, Noor ; Majdoub, Fatma ; Janssens, Katrien...
European Journal of Human Genetics. , 2024

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

3

Novel presentation of AADC deficiency as a mild phenotype w..:

Thys, Liene ; Meuwissen, Marije ; Janssens, Katrien.
Heliyon. 10 (2024) 1 - p. e23746 , 2024

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

4

Implementation of Exome Sequencing in Prenatal Diagnostics:..:

Janicki, Ewa ; De Rademaeker, Marjan ; Meunier, Colombine...
Diagnostics. 13 (2023) 5 - p. 860 , 2023

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

5

Confirmation of gray matter heterotopia as part of the DDX2..:

Thys, Liene ; Beysen, Diane ; Jansen, Anna..
American Journal of Medical Genetics Part A. , 2023

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

6

Population screening for 15q11-q13 duplications: corroborat..:

Parijs, Ilse ; Brison, Nathalie ; Vancoillie, Leen...
European Journal of Human Genetics. 32 (2023) 1 - p. 31-36 , 2023

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

7

Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce ..:

Naesens, Leslie ; Nemegeer, Josephine ; Roelens, Filip...
Journal of Clinical Immunology. 42 (2022) 5 - p. 962-974 , 2022

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

8

Functional and clinical studies reveal pathophysiological c..:

Palmer, Elizabeth E. ; Pusch, Michael ; Picollo, Alessandra...
Molecular Psychiatry. 28 (2022) 2 - p. 668-697 , 2022

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

9

Tetrasomy 9p, a Prenatal Challenge: Two Novel Cases:

Zaghi, Mahtab ; Janssens, Katrien ; Hectors, Wim..
Reproductive Medicine. 3 (2022) 1 - p. 42-49 , 2022

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

10

Outcome of publicly funded nationwide first-tier noninvasiv..:

Van Den Bogaert, Kris ; Lannoo, Lore ; Brison, Nathalie...
Genetics in Medicine. 23 (2021) 6 - p. 1137-1142 , 2021

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

11

Longitudinal Copy-Number Alteration Analysis in Plasma Cell..:

Boons, Gitta ; Vandamme, Timon ; Mariën, Laura...
Clinical Cancer Research. 28 (2021) 2 - p. 338-349 , 2021

Link: https://doi.org/10.1158/..

12

Pushing the Limits of Prenatal Ultrasound: A Case of Dorsal..:

Leroij, Olivier ; Van der Veeken, Lennart ; Blaumeiser, Bettina.
Reproductive Medicine. 2 (2021) 3 - p. 118-124 , 2021

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

13

Non‐invasive prenatal testing detects blood chimerism in di..:

Janicki, Ewa ; Janssens, Katrien ; Blaumeiser, Bettina
Prenatal Diagnosis. 42 (2021) 2 - p. 236-239 , 2021

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

14

Genetic Testing Contributes to Diagnosis in Cerebral Palsy:..:

Beysen, Diane ; De Cordt, Chania ; Dielman, Charlotte...
Frontiers in Neurology. 12 (2021) - p. , 2021

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

15

Prenatally detected copy number variants in a national coho..:

Muys, Joke ; Jacquemyn, Yves ; Blaumeiser, Bettina...
Prenatal Diagnosis. 40 (2020) 10 - p. 1272-1283 , 2020

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