Clinical characterization, genetic mapping and whole- genome sequence analysis of a novel autosomal recessive intellectual disability syndrome

E. Kaasinen; E. Rahikkala; P. Koivunen; S. Miettinen; M.M.C. Wamelink; M. Aavikko; K. Palin; J. Myllyharju; J.S. Moilanen; L. Pajunen; A. Karhu; L.A. Aaltonen

doi:https://doi.org/10.1016/j.ejmg.2014.07.002

Clinical characterization, genetic mapping and whole- genome sequence analysis of a novel autosomal recessive intellectual disability syndrome

E. Kaasinen, E. Rahikkala, P. Koivunen, S. Miettinen, M.M.C. Wamelink, M. Aavikko, K. Palin, J. Myllyharju, J.S. Moilanen, L. Pajunen, A. Karhu, L.A. Aaltonen

Laboratory Medicine (VUmc)

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

15 Citations (Scopus)

Original language	English
Pages (from-to)	543-551
Journal	European journal of medical genetics
Volume	57
Issue number	10
DOIs	https://doi.org/10.1016/j.ejmg.2014.07.002
Publication status	Published - 2014

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https://doi.org/10.1016/j.ejmg.2014.07.002

Cite this

Kaasinen, E., Rahikkala, E., Koivunen, P., Miettinen, S., Wamelink, M. M. C., Aavikko, M., Palin, K., Myllyharju, J., Moilanen, J. S., Pajunen, L., Karhu, A., & Aaltonen, L. A. (2014). Clinical characterization, genetic mapping and whole- genome sequence analysis of a novel autosomal recessive intellectual disability syndrome. European journal of medical genetics, 57(10), 543-551. https://doi.org/10.1016/j.ejmg.2014.07.002

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title = "Clinical characterization, genetic mapping and whole- genome sequence analysis of a novel autosomal recessive intellectual disability syndrome",

author = "E. Kaasinen and E. Rahikkala and P. Koivunen and S. Miettinen and M.M.C. Wamelink and M. Aavikko and K. Palin and J. Myllyharju and J.S. Moilanen and L. Pajunen and A. Karhu and L.A. Aaltonen",

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Kaasinen, E, Rahikkala, E, Koivunen, P, Miettinen, S, Wamelink, MMC, Aavikko, M, Palin, K, Myllyharju, J, Moilanen, JS, Pajunen, L, Karhu, A & Aaltonen, LA 2014, 'Clinical characterization, genetic mapping and whole- genome sequence analysis of a novel autosomal recessive intellectual disability syndrome', European journal of medical genetics, vol. 57, no. 10, pp. 543-551. https://doi.org/10.1016/j.ejmg.2014.07.002

TY - JOUR

T1 - Clinical characterization, genetic mapping and whole- genome sequence analysis of a novel autosomal recessive intellectual disability syndrome

AU - Kaasinen, E.

AU - Rahikkala, E.

AU - Koivunen, P.

AU - Miettinen, S.

AU - Wamelink, M.M.C.

AU - Aavikko, M.

AU - Palin, K.

AU - Myllyharju, J.

AU - Moilanen, J.S.

AU - Pajunen, L.

AU - Karhu, A.

AU - Aaltonen, L.A.

PY - 2014

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DO - https://doi.org/10.1016/j.ejmg.2014.07.002

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SN - 1769-7212

VL - 57

SP - 543

EP - 551

JO - European journal of medical genetics

JF - European journal of medical genetics

IS - 10

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