UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients

N. de Leeuw; S. Bulk; A. Green; L. Jaeckle-Santos; L.A. Baker; A.R. Zinn; T. Kleefstra; J.J. van der Smagt; A.M. Vianne Morgante; B.B. de Vries; H. van Bokhoven; A.P. Brouwer

UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients

Translated title of the contribution: UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients

N. de Leeuw
, S. Bulk
, A. Green
, L. Jaeckle-Santos
, L.A. Baker
, A.R. Zinn
, T. Kleefstra
, J.J. van der Smagt
, A.M. Vianne Morgante
, B.B. de Vries
, H. van Bokhoven
, A.P. Brouwer

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

Translated title of the contribution	UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients
Original language	Undefined/Unknown
Pages (from-to)	3084-3090
Number of pages	7
Journal	American Journal of Medical Genetics. Part A
Volume	152A
Issue number	12
Publication status	Published - 2010

Keywords

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

Cite this

de Leeuw, N., Bulk, S., Green, A., Jaeckle-Santos, L., Baker, L. A., Zinn, A. R., Kleefstra, T., van der Smagt, J. J., Vianne Morgante, A. M., de Vries, B. B., van Bokhoven, H., & Brouwer, A. P. (2010). UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients. American Journal of Medical Genetics. Part A, 152A(12), 3084-3090.

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title = "UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients",

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

author = "\{de Leeuw\}, N. and S. Bulk and A. Green and L. Jaeckle-Santos and L.A. Baker and A.R. Zinn and T. Kleefstra and \{van der Smagt\}, J.J. and \{Vianne Morgante\}, A.M. and \{de Vries\}, B.B. and \{van Bokhoven\}, H. and A.P. Brouwer",

year = "2010",

language = "Undefined/Unknown",

volume = "152A",

pages = "3084--3090",

journal = "American Journal of Medical Genetics. Part A",

issn = "1552-4825",

publisher = "John Wiley \& Sons Inc.",

number = "12",

}

de Leeuw, N, Bulk, S, Green, A, Jaeckle-Santos, L, Baker, LA, Zinn, AR, Kleefstra, T, van der Smagt, JJ, Vianne Morgante, AM, de Vries, BB, van Bokhoven, H & Brouwer, AP 2010, 'UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients', American Journal of Medical Genetics. Part A, vol. 152A, no. 12, pp. 3084-3090.

TY - JOUR

T1 - UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients

AU - de Leeuw, N.

AU - Bulk, S.

AU - Green, A.

AU - Jaeckle-Santos, L.

AU - Baker, L.A.

AU - Zinn, A.R.

AU - Kleefstra, T.

AU - van der Smagt, J.J.

AU - Vianne Morgante, A.M.

AU - de Vries, B.B.

AU - van Bokhoven, H.

AU - Brouwer, A.P.

PY - 2010

Y1 - 2010

KW - Econometric and Statistical Methods: General

KW - Geneeskunde (GENK)

KW - Geneeskunde(GENK)

KW - Medical sciences

KW - Bescherming en bevordering van de menselijke gezondheid

M3 - Article

SN - 1552-4825

VL - 152A

SP - 3084

EP - 3090

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

IS - 12

ER -