E-LIB Suche - Ergebnisse für: Stevens, Servi J. C.

1

Rapid exome sequencing as a first-tier test in neonates wit..:

Olde Keizer, Richelle A. C. M. ; Marouane, Abderrahim ; Kerstjens-Frederikse, Wilhelmina S....
European Journal of Pediatrics. 182 (2023) 6 - p. 2683-2692 , 2023

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

2

Further clinical and molecular characterization of an XLID ..:

Delanne, Julian ; Lecat, Magaly ; Blackburn, Patrick R....
European Journal of Medical Genetics. 66 (2023) 1 - p. 104670 , 2023

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

3

Prevalence of chromosomal alterations in first-trimester sp..:

Essers, Rick ; Lebedev, Igor N. ; Kurg, Ants...
Nature Medicine. 29 (2023) 12 - p. 3233-3242 , 2023

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

4

All‐in‐one whole exome sequencing strategy with simultaneou..:

Faas, Brigitte H. W. ; Westra, Dineke ; de Munnik, Sonja A....
Prenatal Diagnosis. 43 (2023) 4 - p. 527-543 , 2023

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

5

Embryo tracking system for high-throughput sequencing-based..:

van Dijk, Wanwisa ; Derks, Kasper ; Drüsedau, Marion...
Human Reproduction. 37 (2022) 11 - p. 2700-2708 , 2022

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

6

Clinical impact of additional findings detected by genome-w..:

van Prooyen Schuurman, Lisanne ; Sistermans, Erik A. ; Van Opstal, Diane...
The American Journal of Human Genetics. 109 (2022) 6 - p. 1140-1152 , 2022

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

7

Clinical impact of additional findings detected by genome-w..:

van Prooyen Schuurman, Lisanne ; Sistermans, Erik A. ; Van Opstal, Diane...
The American Journal of Human Genetics. 109 (2022) 7 - p. 1344 , 2022

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

8

Truncating SRCAP variants outside the Floating-Harbor syndr..:

Rots, Dmitrijs ; Chater-Diehl, Eric ; Dingemans, Alexander J.M....
The American Journal of Human Genetics. 108 (2021) 6 - p. 1053-1068 , 2021

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

9

Liquid biopsy: state of reproductive medicine and beyond:

Schobers, Gaby ; Koeck, Rebekka ; Pellaers, Dominique...
Human Reproduction. 36 (2021) 11 - p. 2824-2839 , 2021

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

10

The broader phenotypic spectrum of congenital caudal abnorm..:

Stevens, Servi J. C. ; Stumpel, Constance T. R. M. ; Diderich, Karin E. M....
Clinical Genetics. 101 (2021) 2 - p. 183-189 , 2021

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

11

Rapid whole exome sequencing in pregnancies to identify the..:

Deden, Chantal ; Neveling, Kornelia ; Zafeiropopoulou, Dimitra...
Prenatal Diagnosis. 40 (2020) 8 - p. 972-983 , 2020

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

12

Deleterious de novo variants of X‐linkedZC4H2in females cau..:

Frints, Suzanna G.M. ; Hennig, Friederike ; Colombo, Roberto...
Human Mutation. 40 (2019) 12 - p. 2270-2285 , 2019

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

13

Disruptive mutations in TANC2 define a neurodevelopmental s..:

Guo, Hui ; Bettella, Elisa ; Marcogliese, Paul C....
Nature Communications. 10 (2019) 1 - p. , 2019

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

14

Mutations inRPSAandNKX2‐3link development of the spleen and..:

Kerkhofs, Chantal ; Stevens, Servi J. C. ; Faust, Saul N....
Human Mutation. 41 (2019) 1 - p. 196-202 , 2019

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

15

Toward clinical and molecular understanding of pathogenic v..:

van der Schoot, Vyne ; de Munnik, Sonja ; Venselaar, Hanka...
Molecular Genetics & Genomic Medicine. 6 (2018) 3 - p. 393-400 , 2018

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