Discovery of variants unmasked by hemizygous deletions

R. Hochstenbach; M. Poot; I.J. Nijman; I.J. Renkens; K.J. Duran; R. van ´t Slot; E. van Binsbergen; B. van der Zwaag; M.J. Vogel; P.A. Terhal; H.K. Ploos van Amstel; W.P. Kloosterman; E.P.J.G. Cuppen

Discovery of variants unmasked by hemizygous deletions

Translated title of the contribution: Discovery of variants unmasked by hemizygous deletions

R. Hochstenbach
, M. Poot
, I.J. Nijman
, I.J. Renkens
, K.J. Duran
, R. van ´t Slot
, E. van Binsbergen
, B. van der Zwaag
, M.J. Vogel
, P.A. Terhal
, H.K. Ploos van Amstel
, W.P. Kloosterman
, E.P.J.G. Cuppen

Research output: Contribution to journal › Article › Academic › peer-review

Translated title of the contribution	Discovery of variants unmasked by hemizygous deletions
Original language	Undefined/Unknown
Pages (from-to)	748-753
Number of pages	6
Journal	European Journal of Human Genetics
Volume	20
Issue number	7
Publication status	Published - 2012

Keywords

Econometric and Statistical Methods: General
Geneeskunde(GENK)
Medical sciences
Bescherming en bevordering van de menselijke gezondheid

Access to Document

http://www.ncbi.nlm.nih.gov/pubmed/22258528

Cite this

Hochstenbach, R., Poot, M., Nijman, I. J., Renkens, I. J., Duran, K. J., van ´t Slot, R., van Binsbergen, E., van der Zwaag, B., Vogel, M. J., Terhal, P. A., Ploos van Amstel, H. K., Kloosterman, W. P., & Cuppen, E. P. J. G. (2012). Discovery of variants unmasked by hemizygous deletions. European Journal of Human Genetics, 20(7), 748-753. http://www.ncbi.nlm.nih.gov/pubmed/22258528

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author = "R. Hochstenbach and M. Poot and I.J. Nijman and I.J. Renkens and K.J. Duran and \{van ´t Slot\}, R. and \{van Binsbergen\}, E. and \{van der Zwaag\}, B. and M.J. Vogel and P.A. Terhal and \{Ploos van Amstel\}, H.K. and W.P. Kloosterman and E.P.J.G. Cuppen",

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language = "Undefined/Unknown",

volume = "20",

pages = "748--753",

journal = "European Journal of Human Genetics",

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T1 - Discovery of variants unmasked by hemizygous deletions

AU - Hochstenbach, R.

AU - Poot, M.

AU - Nijman, I.J.

AU - Renkens, I.J.

AU - Duran, K.J.

AU - van ´t Slot, R.

AU - van Binsbergen, E.

AU - van der Zwaag, B.

AU - Vogel, M.J.

AU - Terhal, P.A.

AU - Ploos van Amstel, H.K.

AU - Kloosterman, W.P.

AU - Cuppen, E.P.J.G.

PY - 2012

Y1 - 2012

KW - Econometric and Statistical Methods: General

KW - Geneeskunde(GENK)

KW - Medical sciences

KW - Bescherming en bevordering van de menselijke gezondheid

M3 - Article

SN - 1018-4813

VL - 20

SP - 748

EP - 753

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 7

ER -