Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses

K.M. Sanggaard; Nanna Dahl Rendtorff; K.W. Kjær; Hans Rudolf Lytchoff Eiberg; T. Johnsen; S. Gimsing; J. Dyrmose; K.O. Nielsen; K. Lage; Lisbeth Tranebjærg

Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses

K.M. Sanggaard, Nanna Dahl Rendtorff, K.W. Kjær, Hans Rudolf Lytchoff Eiberg, T. Johnsen, S. Gimsing, J. Dyrmose, K.O. Nielsen, K. Lage, Lisbeth Tranebjærg

38 Citationer (Scopus)

Abstract

Udgivelsesdato: 2007/11

Originalsprog	Engelsk
Tidsskrift	European Journal of Human Genetics
Vol/bind	15
Udgave nummer	11
Sider (fra-til)	1121-1131
Antal sider	10
ISSN	1018-4813
Status	Udgivet - 2007

Citationsformater

Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. / Sanggaard, K.M.; Rendtorff, Nanna Dahl; Kjær, K.W. et al.

I: European Journal of Human Genetics, Bind 15, Nr. 11, 2007, s. 1121-1131.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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abstract = "Udgivelsesdato: 2007/11",

author = "K.M. Sanggaard and Rendtorff, {Nanna Dahl} and K.W. Kj{\ae}r and Eiberg, {Hans Rudolf Lytchoff} and T. Johnsen and S. Gimsing and J. Dyrmose and K.O. Nielsen and K. Lage and Lisbeth Tranebj{\ae}rg",

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T1 - Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses

AU - Sanggaard, K.M.

AU - Rendtorff, Nanna Dahl

AU - Kjær, K.W.

AU - Eiberg, Hans Rudolf Lytchoff

AU - Johnsen, T.

AU - Gimsing, S.

AU - Dyrmose, J.

AU - Nielsen, K.O.

AU - Lage, K.

AU - Tranebjærg, Lisbeth

PY - 2007

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N2 - Udgivelsesdato: 2007/11

AB - Udgivelsesdato: 2007/11

M3 - Journal article

SN - 1018-4813

VL - 15

SP - 1121

EP - 1131

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 11

ER -