Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction (vol 20, pg 271, 2012)

Diana Braunholz; Melanie Hullings; Maria Concepcion Gil-Rodriguez; Christopher T. Fincher; Mark B. Mallozzi; Elizabeth Loy; Melanie Albrecht; Maninder Kaur; Janusz Limon; Abhinav Rampuria; Dinah Clark; Antonie Kline; Andreas Dalski; Juliane Eckhold; Andreas Tzschach; Raoul Hennekam; Gabriele Gillessen-Kaesbach; Jolanta Wierzba; Ian D. Krantz; Matthew A. Deardorff; Frank J. Kaiser

doi:https://doi.org/10.1038/ejhg.2011.209

Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction (vol 20, pg 271, 2012)

Diana Braunholz, Melanie Hullings, Maria Concepcion Gil-Rodriguez, Christopher T. Fincher, Mark B. Mallozzi, Elizabeth Loy, Melanie Albrecht, Maninder Kaur, Janusz Limon, Abhinav Rampuria, Dinah Clark, Antonie Kline, Andreas Dalski, Juliane Eckhold, Andreas Tzschach, Raoul Hennekam, Gabriele Gillessen-Kaesbach, Jolanta Wierzba, Ian D. Krantz, Matthew A. DeardorffFrank J. Kaiser

Research output: Contribution to journal › Comment/Letter to the editor › Academic

Original language	English
Pages (from-to)	366
Journal	European journal of human genetics
Volume	20
Issue number	3
DOIs	https://doi.org/10.1038/ejhg.2011.209
Publication status	Published - 2012

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https://doi.org/10.1038/ejhg.2011.209

Cite this

Braunholz, D., Hullings, M., Gil-Rodriguez, M. C., Fincher, C. T., Mallozzi, M. B., Loy, E., Albrecht, M., Kaur, M., Limon, J., Rampuria, A., Clark, D., Kline, A., Dalski, A., Eckhold, J., Tzschach, A., Hennekam, R., Gillessen-Kaesbach, G., Wierzba, J., Krantz, I. D., ... Kaiser, F. J. (2012). Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction (vol 20, pg 271, 2012). European journal of human genetics, 20(3), 366. https://doi.org/10.1038/ejhg.2011.209

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title = "Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction (vol 20, pg 271, 2012)",

author = "Diana Braunholz and Melanie Hullings and Gil-Rodriguez, {Maria Concepcion} and Fincher, {Christopher T.} and Mallozzi, {Mark B.} and Elizabeth Loy and Melanie Albrecht and Maninder Kaur and Janusz Limon and Abhinav Rampuria and Dinah Clark and Antonie Kline and Andreas Dalski and Juliane Eckhold and Andreas Tzschach and Raoul Hennekam and Gabriele Gillessen-Kaesbach and Jolanta Wierzba and Krantz, {Ian D.} and Deardorff, {Matthew A.} and Kaiser, {Frank J.}",

year = "2012",

doi = "https://doi.org/10.1038/ejhg.2011.209",

language = "English",

volume = "20",

pages = "366",

journal = "European journal of human genetics",

issn = "1018-4813",

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Braunholz, D, Hullings, M, Gil-Rodriguez, MC, Fincher, CT, Mallozzi, MB, Loy, E, Albrecht, M, Kaur, M, Limon, J, Rampuria, A, Clark, D, Kline, A, Dalski, A, Eckhold, J, Tzschach, A, Hennekam, R, Gillessen-Kaesbach, G, Wierzba, J, Krantz, ID, Deardorff, MA & Kaiser, FJ 2012, 'Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction (vol 20, pg 271, 2012)', European journal of human genetics, vol. 20, no. 3, pp. 366. https://doi.org/10.1038/ejhg.2011.209

TY - JOUR

T1 - Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction (vol 20, pg 271, 2012)

AU - Braunholz, Diana

AU - Hullings, Melanie

AU - Gil-Rodriguez, Maria Concepcion

AU - Fincher, Christopher T.

AU - Mallozzi, Mark B.

AU - Loy, Elizabeth

AU - Albrecht, Melanie

AU - Kaur, Maninder

AU - Limon, Janusz

AU - Rampuria, Abhinav

AU - Clark, Dinah

AU - Kline, Antonie

AU - Dalski, Andreas

AU - Eckhold, Juliane

AU - Tzschach, Andreas

AU - Hennekam, Raoul

AU - Gillessen-Kaesbach, Gabriele

AU - Wierzba, Jolanta

AU - Krantz, Ian D.

AU - Deardorff, Matthew A.

AU - Kaiser, Frank J.

PY - 2012

Y1 - 2012

U2 - https://doi.org/10.1038/ejhg.2011.209

DO - https://doi.org/10.1038/ejhg.2011.209

M3 - Comment/Letter to the editor

SN - 1018-4813

VL - 20

SP - 366

JO - European journal of human genetics

JF - European journal of human genetics

IS - 3

ER -