E-LIB Suche - Ergebnisse für: Svaneby, Dea

1

14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and R..:

Eno, Celeste C. ; Graakjaer, Jesper ; Svaneby, Dea...
American Journal of Medical Genetics Part A. 185 (2021) 5 - p. 1519-1524 , 2021

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

2

Phenotypic presentations of Hajdu-Cheney syndrome according..:

Graversen, Lise ; Handrup, Mette Møller ; Irving, Melita...
European Journal of Medical Genetics. 63 (2020) 2 - p. 103650 , 2020

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

3

Absence of an osteopetrosis phenotype in IKBKG (NEMO) mutat..:

Frost, Morten ; Tencerova, Michaela ; Andreasen, Christina M....
Bone. 121 (2019) - p. 243-254 , 2019

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

4

17q12 deletion and duplication syndrome in Denmark—A clinic..:

Rasmussen, Maria ; Vestergaard, Else Marie ; Graakjaer, Jesper...
American Journal of Medical Genetics Part A. 170 (2016) 11 - p. 2934-2942 , 2016

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

5

The prevalence of X-linked hypohidrotic ectodermal dysplasi..:

Nguyen-Nielsen, Mary ; Skovbo, Stine ; Svaneby, Dea..
European Journal of Medical Genetics. 56 (2013) 5 - p. 236-242 , 2013

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

6

The duplication 17p13.3 phenotype: Analysis of 21 families ..:

Curry, Cynthia J. ; Rosenfeld, Jill A. ; Grant, Erica...
American Journal of Medical Genetics Part A. 161 (2013) 8 - p. 1833-1852 , 2013

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

7

Coralline hydroxyapatite granules inferior to morselized al..:

Baas, Jorgen ; Svaneby, Dea ; Jensen, Thomas Bo...
Journal of Biomedical Materials Research Part A. 99A (2011) 1 - p. 9-15 , 2011

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

8

14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and R..:

Eno, Celeste C ; Graakjaer, Jesper ; Svaneby, Dea...
Eno , C C , Graakjaer , J , Svaneby , D , Nizon , M , Kianmahd , J , Signer , R , Martinez-Agosto , J A & Quintero-Rivera , F 2021 , ' 14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5 : A new potential cause of developmental and language delay in three unrelated patients ' , American Journal of Medical Genetics, Part A , vol. 185 , no. 5 , pp. 1519-1524 . https://doi.org/10.1002/ajmg.a.62117. , 2021

Link: https://portal.findresea..

9

Absence of an osteopetrosis phenotype in IKBKG (NEMO) mutat..:

Frost, Morten ; Tencerova, Michaela ; Andreasen, Christina Møller...
Frost , M , Tencerova , M , Andreasen , C M , Levin Andersen , T , Ejersted , C A , Svaneby , D , Kassem , M , Whyte , M P & Frederiksen , A L 2019 , ' Absence of an osteopetrosis phenotype in IKBKG (NEMO) mutation-positive women : A case-control study ' , Bone , vol. 121 , pp. 243-254 . https://doi.org/10.1016/j.bone.2019.01.014. , 2019

Link: https://portal.findresea..

10

Absence of an Osteopetrosis Phenotype in IKBKG (NEMO) Mutat..:

Frost, Morten ; Tencerova, Michaela ; Andreasen, Christina M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6457251/. , 2019

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

11

The duplication 17p13.3 phenotype: Analysis of 21 families ..:

Curry, Cynthia J ; Rosenfeld, Jill A ; Grant, Erica...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5517092/. , 2013

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