E-LIB Suche - Ergebnisse für: van Rij, Maartje C

1

Two novel cases expanding the phenotype of SETD2‐related ov..:

van Rij, Maartje C. ; Hollink, Iris H. I. M. ; Terhal, Paulien Anna...
American Journal of Medical Genetics Part A. 176 (2018) 5 - p. 1212-1215 , 2018

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

2

Polyhydramnios and cerebellar atrophy: a prenatal presentat..:

van Rij, Maartje C. ; Jansen, Fenna A. R. ; Hellebrekers, Debby M. E. I....
Clinical Case Reports. 4 (2016) 4 - p. 425-428 , 2016

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

3

Profiles and motives for PGD: a prospective cohort study of..:

van Rij, Maartje C. ; Gielen, Marij ; Lulofs, Rutger...
Human Reproduction. 26 (2011) 7 - p. 1826-1835 , 2011

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

4

Noninvasive Prenatal Test Results Indicative of Maternal Ma..:

Heesterbeek, Catharina J ; Aukema, Sietse M ; Galjaard, Robert-Jan H...
https://research.rug.nl/en/publications/b9858dcd-c6ac-42ea-80ee-5ac7418f4648. , 2022

Link: https://hdl.handle.net/1..

5

Polyhydramnios and cerebellar atrophy: a prenatal presentat..:

van Rij, Maartje C ; Jansen, Fenna A. R ; Hellebrekers, Debby M. E. I...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4831400/. , 2016

Link: http://www.ncbi.nlm.nih...

6

Polyhydramnios and cerebellar atrophy: a prenatal presentat..:

van Rij, Maartje C ; Jansen, Fenna A. R ; Hellebrekers, Debby M. E. I...
van Rij , M C , Jansen , F A R , Hellebrekers , D M E I , Onkenhout , W , Smeets , B , Hendrickx , A T , Gottschalk , R W H , Steggerda , S J , Peeters-Scholte , C M P C D , Haak , M C & Hilhorst-Hofstee , Y 2016 , ' Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene ' , Clinical Case Reports , vol. 4 , no. 4 , pp. 425-428 . https://doi.org/10.1002/ccr3.511. , 2016

Link: https://cris.maastrichtu..

7

Preimplantation genetic diagnosis (PGD) for Huntington's di..:

Van Rij, Maartje C ; De Rademaeker, Marjan ; Moutou, Céline...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3421112. , 2012

Link: http://www.ncbi.nlm.nih...

8

Preimplantation genetic diagnosis (PGD) for Huntington's di..:

Van Rij, Maartje C ; De Rademaeker, Marjan ; Moutou, Céline...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306852. , 2012

Link: http://www.ncbi.nlm.nih...

9

Preimplantation genetic diagnosis (PGD) for Huntington's di..:

Van Rij, Maartje C ; De Rademaeker, Marjan ; Moutou, Celine...
Van Rij , M C , De Rademaeker , M , Moutou , C , Dreesen , J C F M , De Rycke , M , Liebaers , I , Geraedts , J P M , De Die-Smulders , C E M & Viville , S 2012 , ' Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres ' , European Journal of Human Genetics , vol. 20 , no. 4 , pp. 368-375 . https://doi.org/10.1038/ejhg.2011.202. , 2012

Link: https://cris.maastrichtu..

10

ESHRE PGD consortium data collection X: cycles from January..:

Harper, Joyce C ; Coonen, E ; de Rycke, M...
Harper , J C , Coonen , E , de Rycke , M , Harton , G , Moutou , C , Pehlivan , T , Traeger-Synodinos , J , van Rij , M C & Goossens , V 2010 , ' ESHRE PGD consortium data collection X: cycles from January to December 2007 with pregnancy follow-up to October 2008 ' , Human Reproduction , vol. 25 , no. 11 , pp. 2685-2707 . https://doi.org/10.1093/humrep/deq228. , 2010

Link: https://cris.maastrichtu..

11

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/..

12

Correction: Putting genome-wide sequencing in neonates into..:

van der Sluijs, Pleuntje J. ; Aten, Emmelien ; Barge-Schaapveld, Daniela Q.C.M....
Genetics in Medicine. 21 (2019) 9 - p. 2159-2164 , 2019

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

13

Putting genome-wide sequencing in neonates into perspective:

van der Sluijs, Pleuntje J. ; Aten, Emmelien ; Barge-Schaapveld, Daniela Q.C.M....
Genetics in Medicine. 21 (2019) 5 - p. 1074-1082 , 2019

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

14

Correction to: Putting genome-wide sequencing in neonates i..:

Sluijs, P.J. (Pleuntje) van der ; Aten, J.A. (Jacob) ; Barge-Schaapveld, D.Q.C.M. (Daniela)...
http://repub.eur.nl/pub/112403. , 2018

Link: http://repub.eur.nl/pub/..

15

Correction : Putting genome-wide sequencing in neonates int..:

van der Sluijs, Pleuntje J ; Aten, Emmelien ; Barge-Schaapveld, Daniela Q.C.M...
1098-3600. , 2019

Link: https://dspace.library.u..