Aarhus Universitets segl

English

Du er her: AU » Om AU » Organisation » Signe Væth » Publikationer » A novel single nucleotide splice site mutation in FHL1 co...

Om AU

Signe Væth

A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology

Publikation: Konferencebidrag › Poster › Forskning

Standard

A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology. / Pen, Anja; Nyegaard, Mette; Fang, Mingyan et al.
2015. Poster session præsenteret ved ESHG 2015, Glasgow, Storbritannien.

Publikation: Konferencebidrag › Poster › Forskning

Harvard

Pen, A, Nyegaard, M, Fang, M, Jiang, H, Christensen, R, Mølgaard, H, Andersen, H, Ulhøi, BP, Østergaard, JR, Væth, S, Sommerlund, M, de Brouwer, APM, Zhang, X & Jensen, UB 2015, 'A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology', ESHG 2015, Glasgow, Storbritannien, 06/06/2015 - 09/07/2015.

APA

Pen, A., Nyegaard, M., Fang, M., Jiang, H., Christensen, R., Mølgaard, H., Andersen, H., Ulhøi, B. P., Østergaard, J. R., Væth, S., Sommerlund, M., de Brouwer, A. P. M., Zhang, X., & Jensen, U. B. (2015). A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology. Poster session præsenteret ved ESHG 2015, Glasgow, Storbritannien.

CBE

Pen A, Nyegaard M, Fang M, Jiang H, Christensen R, Mølgaard H, Andersen H, Ulhøi BP, Østergaard JR, Væth S, et al. 2015. A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology. Poster session præsenteret ved ESHG 2015, Glasgow, Storbritannien.

MLA

Pen, Anja et al. A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology. ESHG 2015, 06 jun. 2015, Glasgow, Storbritannien, Poster, 2015.

Vancouver

Pen A, Nyegaard M, Fang M, Jiang H, Christensen R, Mølgaard H et al.. A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology. 2015. Poster session præsenteret ved ESHG 2015, Glasgow, Storbritannien.

Author

Pen, Anja ; Nyegaard, Mette ; Fang, Mingyan et al. / A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology. Poster session præsenteret ved ESHG 2015, Glasgow, Storbritannien.

Bibtex

@conference{c84110bc413c49c397bb61c412e63cee,
title = "A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology",
keywords = "FHL1",
author = "Anja Pen and Mette Nyegaard and Mingyan Fang and Hui Jiang and Rikke Christensen and Henning M{\o}lgaard and Henning Andersen and Ulh{\o}i, {Benedicte Parm} and {\O}stergaard, {John Rosendahl} and Signe V{\ae}th and Mette Sommerlund and {de Brouwer}, {Arjan P.M.} and Xuiqing Zhang and Jensen, {Uffe Birk}",
year = "2015",
month = jun,
day = "6",
language = "English",
note = "ESHG 2015 : European Society of Human Genetics ; Conference date: 06-06-2015 Through 09-07-2015",

}

RIS

TY - CONF

T1 - A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology

AU - Pen, Anja

AU - Nyegaard, Mette

AU - Fang, Mingyan

AU - Jiang, Hui

AU - Christensen, Rikke

AU - Mølgaard, Henning

AU - Andersen, Henning

AU - Ulhøi, Benedicte Parm

AU - Østergaard, John Rosendahl

AU - Væth, Signe

AU - Sommerlund, Mette

AU - de Brouwer, Arjan P.M.

AU - Zhang, Xuiqing

AU - Jensen, Uffe Birk

PY - 2015/6/6

Y1 - 2015/6/6

KW - FHL1

M3 - Poster

T2 - ESHG 2015

Y2 - 6 June 2015 through 9 July 2015

ER -