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Paulussen, Aimee Dc
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1

MLL2 mutation spectrum in 45 patients with Kabuki Syndrome:

Paulussen, Aimee Dc ; Stegmann, Alexander ; Blok, Marinus J...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.21416.  , 2010
Link: https://hal.science/hal-..
 
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2

The unfolding clinical spectrum of holoprosencephaly due to..:

Paulussen, Aimée DC ; Schrander-Stumpel, Constance T ; Tserpelis, Demis C J...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987413.  , 2010
Link: http://www.ncbi.nlm.nih...
 
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3

Clinical Guideline for Preimplantation Genetic Testing in I..:

Verdonschot, Job A.J. ; Hellebrekers, Debby M.E.I. ; van Empel, Vanessa P.M....
Circulation: Genomic and Precision Medicine.  17 (2024)  2 - p. , 2024
Link: https://doi.org/10.1161/..
 
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Genome sequencing as a generic diagnostic strategy for rare..:

Schobers, Gaby ; Derks, Ronny ; den Ouden, Amber...
Genome Medicine.  16 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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Detection of PTCH1 Copy-Number Variants in Mosaic Basal Cel..:

Roemen, Guido M. J. M. ; Theunissen, Tom E. J. ; Hoezen, Ward W. J....
Biomedicines.  12 (2024)  2 - p. 330 , 2024
Link: https://doi.org/10.3390/..
 
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Preimplantation genetic testing for Neurofibromatosis type ..:

Vernimmen, Vivian ; Paulussen, Aimée D. C. ; Dreesen, Jos C. F. M....
European Journal of Human Genetics.  31 (2023)  8 - p. 918-924 , 2023
Link: https://doi.org/10.1038/..
 
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7

Consanguineous couples' experiences and views regarding exp..:

van der Hout, Sanne ; Woudstra, Anke J. ; Dondorp, Wybo...
European Journal of Human Genetics.  31 (2023)  11 - p. 1317-1322 , 2023
Link: https://doi.org/10.1038/..
 
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8

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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9

Facioscapulohumeral muscular dystrophy—Reproductive counsel..:

Vincenten, Sanne C. C. ; Van Der Stoep, Nienke ; Paulussen, Aimée D. C....
Clinical Genetics.  101 (2021)  2 - p. 149-160 , 2021
Link: https://doi.org/10.1111/..
 
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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/..
 
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11

Diagnostic exome-based preconception carrier testing in con..:

Sallevelt, Suzanne C.E.H. ; Stegmann, Alexander P.A. ; de Koning, Bart...
Genetics in Medicine.  23 (2021)  6 - p. 1125-1136 , 2021
Link: https://doi.org/10.1038/..
 
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12

P0050PRE-IMPLANTATION GENETIC TESTING FOR MONOGENIC KIDNEY ..:

Van Eerde, Albertien M ; De Die-Smulders, Christine ; Knoers, Nine...
Nephrology Dialysis Transplantation.  35 (2020)  Supplement_3 - p. , 2020
Link: https://doi.org/10.1093/..
 
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13

Evolution of Dihydropyrimidine Dehydrogenase Diagnostic Tes..:

Coenen, Marieke J.H. ; Paulussen, Aimée D.C. ; Breuer, Marc...
Current Therapeutic Research.  90 (2019)  - p. 1-7 , 2019
Link: https://doi.org/10.1016/..
 
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14

PTCH1 isoform 1b is the major transcript in the development..:

Gielen, Robbert-Jan C. A. M. ; Reinders, Marieke G. H. C. ; Koillinen, Hannele K....
Journal of Human Genetics.  63 (2018)  9 - p. 965-969 , 2018
Link: https://doi.org/10.1038/..
 
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15

Extreme phenotypic variability of a novel GLI2 mutation in ..:

Kremer Hovinga, Idske C.L. ; Giltay, Jacques C. ; van der Crabben, Saskia N....
Clinical Endocrinology.  89 (2018)  3 - p. 378-380 , 2018
Link: https://doi.org/10.1111/..
 
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