A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12

O. Bartsch; D. Schindler; V. Bever; S. Gesk; R. van ´t Slot; I. Feddersen; A. Buijs; N.G. Jaspers; R. Siebert; T. Haaf; M. Poot

A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12

Translated title of the contribution: A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12

O. Bartsch
, D. Schindler
, V. Bever
, S. Gesk
, R. van ´t Slot
, I. Feddersen
, A. Buijs
, N.G. Jaspers
, R. Siebert
, T. Haaf
, M. Poot

Department of Genetics

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

Translated title of the contribution	A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12
Original language	Undefined/Unknown
Pages (from-to)	49-55
Number of pages	7
Journal	European Journal of Medical Genetics
Volume	55
Issue number	1
Publication status	Published - 2012

Access to Document

http://www.ncbi.nlm.nih.gov/pubmed?term=21893220%20

Cite this

Bartsch, O., Schindler, D., Bever, V., Gesk, S., van ´t Slot, R., Feddersen, I., Buijs, A., Jaspers, N. G., Siebert, R., Haaf, T., & Poot, M. (2012). A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12. European Journal of Medical Genetics, 55(1), 49-55. http://www.ncbi.nlm.nih.gov/pubmed?term=21893220%20

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title = "A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12",

author = "O. Bartsch and D. Schindler and V. Bever and S. Gesk and \{van ´t Slot\}, R. and I. Feddersen and A. Buijs and N.G. Jaspers and R. Siebert and T. Haaf and M. Poot",

year = "2012",

language = "Undefined/Unknown",

volume = "55",

pages = "49--55",

journal = "European Journal of Medical Genetics",

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Bartsch, O, Schindler, D, Bever, V, Gesk, S, van ´t Slot, R, Feddersen, I, Buijs, A, Jaspers, NG, Siebert, R, Haaf, T & Poot, M 2012, 'A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12', European Journal of Medical Genetics, vol. 55, no. 1, pp. 49-55. <http://www.ncbi.nlm.nih.gov/pubmed?term=21893220%20>

TY - JOUR

T1 - A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12

AU - Bartsch, O.

AU - Schindler, D.

AU - Bever, V.

AU - Gesk, S.

AU - van ´t Slot, R.

AU - Feddersen, I.

AU - Buijs, A.

AU - Jaspers, N.G.

AU - Siebert, R.

AU - Haaf, T.

AU - Poot, M.

PY - 2012

Y1 - 2012

M3 - Article

SN - 1769-7212

VL - 55

SP - 49

EP - 55

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

IS - 1

ER -