E-LIB Suche - Ergebnisse für: Kjaergaard, Susanne

1

National screening guidelines and developments in prenatal ..:

Lou, Stina ; Petersen, Olav B. ; Jørgensen, Finn S....
Acta Obstetricia et Gynecologica Scandinavica. 97 (2018) 2 - p. 195-203 , 2018

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

2

Correlation between Z score, fetal fraction, and sequencing..:

Balslev‐Harder, Marie ; Richter, Stine R. ; Kjærgaard, Susanne.
Prenatal Diagnosis. 37 (2017) 9 - p. 943-945 , 2017

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

3

The length of Y-chromosomal sequence reads in noninvasive p..:

Balslev-Harder, Marie ; Jørgensen, Finn Stener ; Kjaergaard, Susanne.
Prenatal Diagnosis. 37 (2017) 8 - p. 843-845 , 2017

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

4

Re-Examination of Danish Carriers of Balanced Chromosomal I..:

Rasmussen, Malene B. ; Bache, Iben ; Mehrjouy, Mana M....
Cancer Genetics. 209 (2016) 5 - p. 231 , 2016

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

5

Open source non‐invasive prenatal testing platform and its ..:

Johansen, Peter ; Richter, Stine R. ; Balslev‐Harder, Marie...
Prenatal Diagnosis. 36 (2016) 6 - p. 530-536 , 2016

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

6

The Danish Fetal Medicine Database: establishment, organiza..:

Ekelund, Charlotte K. ; Petersen, Olav B. ; Jørgensen, Finn S....
Acta Obstetricia et Gynecologica Scandinavica. 94 (2015) 6 - p. 577-583 , 2015

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

7

Monozygotic twins with a de novo 0.32 Mb 16q24.3 deletion, ..:

Grønborg, Sabine ; Kjaergaard, Susanne ; Hove, Hanne..
American Journal of Medical Genetics Part A. 167 (2015) 11 - p. 2731-2736 , 2015

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

8

Delineation of the 3p14.1p13 microdeletion associated with ..:

Thevenon, Julien ; Monnier, Nicole ; Callier, Patrick...
American Journal of Medical Genetics Part A. 164 (2014) 12 - p. 3027-3034 , 2014

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

9

A newly recognized 13q12.3 microdeletion syndrome character..:

Bartholdi, Deborah ; Stray‐Pedersen, Asbjørg ; Azzarello‐Burri, Silvia...
American Journal of Medical Genetics Part A. 164 (2014) 5 - p. 1277-1283 , 2014

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

10

Fetal gender adjustment decreases the expected variance in ..:

Johansen, Peter ; Duno, Morten ; Kjaergaard, Susanne
Prenatal Diagnosis. 34 (2014) 5 - p. 508-509 , 2014

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

11

Multicentric osteolysis with nodulosis and arthropathy (MON..:

Castberg, Filip Christian ; Kjaergaard, Susanne ; Mosig, Rebecca A....
European Journal of Pediatrics. 172 (2013) 12 - p. 1657-1663 , 2013

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

12

Delineation of a new chromosome 20q11.2 duplication syndrom..:

Avila, Magali ; Kirchhoff, Maria ; Marle, Nathalie...
American Journal of Medical Genetics Part A. 161 (2013) 7 - p. 1594-1598 , 2013

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

13

De Novo Mutations in the Genome Organizer CTCF Cause Intell..:

Gregor, Anne ; Oti, Martin ; Kouwenhoven, Evelyn N....
The American Journal of Human Genetics. 93 (2013) 1 - p. 124-131 , 2013

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

14

45,X/46,XY Mosaicism: Phenotypic Characteristics, Growth, a..:

Lindhardt Johansen, Marie ; Hagen, Casper P. ; Rajpert-De Meyts, Ewa...
The Journal of Clinical Endocrinology & Metabolism. 97 (2012) 8 - p. E1540-E1549 , 2012

Link: https://doi.org/10.1210/..

15

Microdeletion in distal 17p13.1: A recognizable phenotype w..:

Zeesman, Susan ; Kjaergaard, Susanne ; Hove, Hanne D....
American Journal of Medical Genetics Part A. 158A (2012) 8 - p. 1832-1836 , 2012

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