Hidden mutations in cornelia de lange syndrome limitations of sanger sequencing in molecular diagnostics [Human Mutation, 36, (2014) 26-29]

Diana Braunholz; Carolin Obieglo; Ilaria Parenti; Jelena Pozojevic; Juliane Eckhold; Benedikt Reiz; Ingrid Brænne; Kerstin S. Wendt; Erwan Watrin; Julia Vodopiutz; Harald Rieder; Gabriele Gillessen-Kaesbach; Frank J. Kaiser

doi:10.1002/humu.22755

Hidden mutations in cornelia de lange syndrome limitations of sanger sequencing in molecular diagnostics [Human Mutation, 36, (2014) 26-29]

Diana Braunholz, Carolin Obieglo, Ilaria Parenti, Jelena Pozojevic, Juliane Eckhold, Benedikt Reiz, Ingrid Brænne, Kerstin S. Wendt, Erwan Watrin, Julia Vodopiutz, Harald Rieder, Gabriele Gillessen-Kaesbach, Frank J. Kaiser

1 Citation (Scopus)

Original language	English
Journal	Human Mutation
Volume	36
Issue number	2
Pages (from-to)	279-280
Number of pages	2
ISSN	1059-7794
DOIs	https://doi.org/10.1002/humu.22755
Publication status	Published - 01.02.2015

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Research Area: Medical Genetics

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10.1002/humu.22755

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Braunholz, D., Obieglo, C., Parenti, I., Pozojevic, J., Eckhold, J., Reiz, B., Brænne, I., Wendt, K. S., Watrin, E., Vodopiutz, J., Rieder, H., Gillessen-Kaesbach, G., & Kaiser, F. J. (2015). Hidden mutations in cornelia de lange syndrome limitations of sanger sequencing in molecular diagnostics [Human Mutation, 36, (2014) 26-29]. Human Mutation, 36(2), 279-280. https://doi.org/10.1002/humu.22755

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title = "Hidden mutations in cornelia de lange syndrome limitations of sanger sequencing in molecular diagnostics [Human Mutation, 36, (2014) 26-29]",

author = "Diana Braunholz and Carolin Obieglo and Ilaria Parenti and Jelena Pozojevic and Juliane Eckhold and Benedikt Reiz and Ingrid Br{\ae}nne and Wendt, \{Kerstin S.\} and Erwan Watrin and Julia Vodopiutz and Harald Rieder and Gabriele Gillessen-Kaesbach and Kaiser, \{Frank J.\}",

year = "2015",

month = feb,

day = "1",

doi = "10.1002/humu.22755",

language = "English",

volume = "36",

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journal = "Human Mutation",

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Braunholz, D, Obieglo, C, Parenti, I, Pozojevic, J, Eckhold, J, Reiz, B, Brænne, I, Wendt, KS, Watrin, E, Vodopiutz, J, Rieder, H, Gillessen-Kaesbach, G & Kaiser, FJ 2015, 'Hidden mutations in cornelia de lange syndrome limitations of sanger sequencing in molecular diagnostics [Human Mutation, 36, (2014) 26-29]', Human Mutation, vol. 36, no. 2, pp. 279-280. https://doi.org/10.1002/humu.22755

TY - JOUR

T1 - Hidden mutations in cornelia de lange syndrome limitations of sanger sequencing in molecular diagnostics [Human Mutation, 36, (2014) 26-29]

AU - Braunholz, Diana

AU - Obieglo, Carolin

AU - Parenti, Ilaria

AU - Pozojevic, Jelena

AU - Eckhold, Juliane

AU - Reiz, Benedikt

AU - Brænne, Ingrid

AU - Wendt, Kerstin S.

AU - Watrin, Erwan

AU - Vodopiutz, Julia

AU - Rieder, Harald

AU - Gillessen-Kaesbach, Gabriele

AU - Kaiser, Frank J.

PY - 2015/2/1

Y1 - 2015/2/1

UR - https://www.scopus.com/pages/publications/84922059217

U2 - 10.1002/humu.22755

DO - 10.1002/humu.22755

M3 - Comments/Debates

AN - SCOPUS:84922059217

SN - 1059-7794

VL - 36

SP - 279

EP - 280

JO - Human Mutation

JF - Human Mutation

IS - 2

ER -

Hidden mutations in cornelia de lange syndrome limitations of sanger sequencing in molecular diagnostics [Human Mutation, 36, (2014) 26-29]

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