17q12 Deletion and Duplication Syndrome in Denmark: A Clinical Cohort of 38 Patients and Review of the Literature

Maria Rasmussen; Else Marie Vestergaard; Jesper Graakjaer; Yanko Petkov; Iben Bache; Christina Fagerberg; Maria Kibaek; Dea Svaneby; Olav Bjorn Petersen; Charlotte Brasch-Andersen; Lone Sunde

doi:10.1002/ajmg.a.37848

17q12 Deletion and Duplication Syndrome in Denmark: A Clinical Cohort of 38 Patients and Review of the Literature

Maria Rasmussen, Else Marie Vestergaard, Jesper Graakjaer, Yanko Petkov, Iben Bache, Christina Fagerberg, Maria Kibaek, Dea Svaneby, Olav Bjorn Petersen, Charlotte Brasch-Andersen, Lone Sunde

Medical Genetics Program

20 Citationer (Scopus)

Originalsprog	Engelsk
Tidsskrift	American Journal of Medical Genetics. Part A
Vol/bind	170
Udgave nummer	11
Sider (fra-til)	2934-2942
ISSN	1552-4825
DOI	https://doi.org/10.1002/ajmg.a.37848
Status	Udgivet - 1 nov. 2016

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10.1002/ajmg.a.37848

Citationsformater

Rasmussen, M., Vestergaard, E. M., Graakjaer, J., Petkov, Y., Bache, I., Fagerberg, C., Kibaek, M., Svaneby, D., Petersen, O. B., Brasch-Andersen, C., & Sunde, L. (2016). 17q12 Deletion and Duplication Syndrome in Denmark: A Clinical Cohort of 38 Patients and Review of the Literature. American Journal of Medical Genetics. Part A, 170(11), 2934-2942. https://doi.org/10.1002/ajmg.a.37848

Rasmussen, M, Vestergaard, EM, Graakjaer, J, Petkov, Y, Bache, I, Fagerberg, C, Kibaek, M, Svaneby, D, Petersen, OB, Brasch-Andersen, C & Sunde, L 2016, '17q12 Deletion and Duplication Syndrome in Denmark: A Clinical Cohort of 38 Patients and Review of the Literature', American Journal of Medical Genetics. Part A, bind 170, nr. 11, s. 2934-2942. https://doi.org/10.1002/ajmg.a.37848

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title = "17q12 Deletion and Duplication Syndrome in Denmark: A Clinical Cohort of 38 Patients and Review of the Literature",

keywords = "17q12 deletion, 17q12 duplication, chromosomal microarray, array cgh, snp array, prenatal diagnostics, genetic counselling, learning disability, kidney anomalies",

author = "Maria Rasmussen and Vestergaard, {Else Marie} and Jesper Graakjaer and Yanko Petkov and Iben Bache and Christina Fagerberg and Maria Kibaek and Dea Svaneby and Petersen, {Olav Bjorn} and Charlotte Brasch-Andersen and Lone Sunde",

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AU - Rasmussen, Maria

AU - Vestergaard, Else Marie

AU - Graakjaer, Jesper

AU - Petkov, Yanko

AU - Bache, Iben

AU - Fagerberg, Christina

AU - Kibaek, Maria

AU - Svaneby, Dea

AU - Petersen, Olav Bjorn

AU - Brasch-Andersen, Charlotte

AU - Sunde, Lone

PY - 2016/11/1

Y1 - 2016/11/1

KW - 17q12 deletion

KW - 17q12 duplication

KW - chromosomal microarray

KW - array cgh

KW - snp array

KW - prenatal diagnostics

KW - genetic counselling

KW - learning disability

KW - kidney anomalies

U2 - 10.1002/ajmg.a.37848

DO - 10.1002/ajmg.a.37848

M3 - Journal article

C2 - 27409573

SN - 1552-4825

VL - 170

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JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 11

ER -

17q12 Deletion and Duplication Syndrome in Denmark: A Clinical Cohort of 38 Patients and Review of the Literature

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