Novel variants in Nordic patients referred for genetic testing of telomere-related disorders

Anna Norberg; Anna Rosén; Klas Raaschou-Jensen; Lars Kjeldsen; Jukka Moilanen; Ylva Paulsson-Karlsson; Baliakas Panagiotis; Olli Lohi; Aymen Ahmed; Astrid Kittang; Pär Larsson; Göran Roos; Sofie Degerman; Magnus Hultdin

doi:10.1038/s41431-018-0112-8

Novel variants in Nordic patients referred for genetic testing of telomere-related disorders

Anna Norberg, Anna Rosén, Klas Raaschou-Jensen, Lars Kjeldsen, Jukka Moilanen, Ylva Paulsson-Karlsson, Baliakas Panagiotis, Olli Lohi, Aymen Ahmed, Astrid Kittang, Pär Larsson, Göran Roos, Sofie Degerman, Magnus Hultdin

Department of Paediatrics

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

7 Citations (Scopus)

Original language	English
Pages (from-to)	858-867
Journal	EUROPEAN JOURNAL OF HUMAN GENETICS
Volume	26
Issue number	6
DOIs	https://doi.org/10.1038/s41431-018-0112-8
Publication status	Published - 2018
Publication type	A1 Journal article-refereed

Publication forum classification

Publication forum level 1

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1038/s41431-018-0112-8

Cite this

Norberg, A., Rosén, A., Raaschou-Jensen, K., Kjeldsen, L., Moilanen, J., Paulsson-Karlsson, Y., Panagiotis, B., Lohi, O., Ahmed, A., Kittang, A., Larsson, P., Roos, G., Degerman, S., & Hultdin, M. (2018). Novel variants in Nordic patients referred for genetic testing of telomere-related disorders. EUROPEAN JOURNAL OF HUMAN GENETICS, 26(6), 858-867. https://doi.org/10.1038/s41431-018-0112-8

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title = "Novel variants in Nordic patients referred for genetic testing of telomere-related disorders",

author = "Anna Norberg and Anna Ros{\'e}n and Klas Raaschou-Jensen and Lars Kjeldsen and Jukka Moilanen and Ylva Paulsson-Karlsson and Baliakas Panagiotis and Olli Lohi and Aymen Ahmed and Astrid Kittang and P{\"a}r Larsson and G{\"o}ran Roos and Sofie Degerman and Magnus Hultdin",

year = "2018",

doi = "10.1038/s41431-018-0112-8",

language = "English",

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Norberg, A, Rosén, A, Raaschou-Jensen, K, Kjeldsen, L, Moilanen, J, Paulsson-Karlsson, Y, Panagiotis, B, Lohi, O, Ahmed, A, Kittang, A, Larsson, P, Roos, G, Degerman, S & Hultdin, M 2018, 'Novel variants in Nordic patients referred for genetic testing of telomere-related disorders', EUROPEAN JOURNAL OF HUMAN GENETICS, vol. 26, no. 6, pp. 858-867. https://doi.org/10.1038/s41431-018-0112-8

TY - JOUR

T1 - Novel variants in Nordic patients referred for genetic testing of telomere-related disorders

AU - Norberg, Anna

AU - Rosén, Anna

AU - Raaschou-Jensen, Klas

AU - Kjeldsen, Lars

AU - Moilanen, Jukka

AU - Paulsson-Karlsson, Ylva

AU - Panagiotis, Baliakas

AU - Lohi, Olli

AU - Ahmed, Aymen

AU - Kittang, Astrid

AU - Larsson, Pär

AU - Roos, Göran

AU - Degerman, Sofie

AU - Hultdin, Magnus

PY - 2018

Y1 - 2018

U2 - 10.1038/s41431-018-0112-8

DO - 10.1038/s41431-018-0112-8

M3 - Article

SN - 1018-4813

VL - 26

SP - 858

EP - 867

JO - EUROPEAN JOURNAL OF HUMAN GENETICS

JF - EUROPEAN JOURNAL OF HUMAN GENETICS

IS - 6

ER -