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Author/Creator Svaneby, Dea

1. 14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients. Issue 5 (25th February 2021)

Authors:
Eno, Celeste C.; Graakjaer, Jesper; Svaneby, Dea; Nizon, Mathilde; Kianmahd, Jessica; Signer, Rebecca; Martinez‐Agosto, Julian A.; Quintero‐Rivera, Fabiola
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 5(2021)
Page Start:
1519
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. 17q12 deletion and duplication syndrome in Denmark—A clinical cohort of 38 patients and review of the literature. Issue 11 (13th July 2016)

Authors:
Rasmussen, Maria; Vestergaard, Else Marie; Graakjaer, Jesper; Petkov, Yanko; Bache, Iben; Fagerberg, Christina; Kibæk, Maria; Svaneby, Dea; Petersen, Olav Bjørn; Brasch‐Andersen, Charlotte; Sunde, Lone
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 11(2016)
Page Start:
2934
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. Issue 8 (27th June 2013)

Authors:
Curry, Cynthia J.; Rosenfeld, Jill A.; Grant, Erica; Gripp, Karen W.; Anderson, Carol; Aylsworth, Arthur S.; Saad, Taha Ben; Chizhikov, Victor V.; Dybose, Giedre; Fagerberg, Christina; Falco, Michelle; Fels, Christina; Fichera, Marco; Graakjaer, Jesper; Greco, Donatella; Hair, Jennifer; Hopkins, ...
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 8(2013:Aug.)
Page Start:
1833
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗