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Stevens, Servi J.C.
148
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Format
Online (147)
Print (1)
Mediatypes
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Articles (Online) (80)
OpenAccess-fulltext (67)
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latin (1)
english (145)
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Sorted by: Year
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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/..
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2
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/..
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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
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/..
?
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/..
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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) 7 - p. 1344 , 2022
Link:
https://doi.org/10.1016/..
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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) 6 - p. 1140-1152 , 2022
Link:
https://doi.org/10.1016/..
?
8
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/..
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9
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/..
?
10
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/..
?
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/..
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12
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/..
?
13
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/..
?
14
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/..
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15
Haploinsufficiency of CUX1 Causes Nonsyndromic Global Devel..:
Platzer, Konrad
;
Cogné, Benjamin
;
Hague, Jennifer
...
Annals of Neurology. 84 (2018) 2 - p. 200-207 , 2018
Link:
https://doi.org/10.1002/..
1-15