X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes

AK Philips; H van ESCH; G Froyen; SA Haas; H Hu; VM Kalscheuer; I Järvelä; A Siren; K Avela; M Somer; M Peippo; M Ahvenainen; F Doagu; M Arvio; H Kääriäinen

doi:10.1186/1750-1172-9-49

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes

AK Philips, H van ESCH, G Froyen, SA Haas, H Hu, VM Kalscheuer, I Järvelä, A Siren, K Avela, M Somer, M Peippo, M Ahvenainen, F Doagu, M Arvio, H Kääriäinen

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69 Citations (Scopus)

Original language	English
Pages (from-to)	49
Journal	Orphanet Journal of Rare Disease
Volume	9
Issue number	1
DOIs	https://doi.org/10.1186/1750-1172-9-49
Publication status	Published - 2014
Publication type	A1 Journal article-refereed

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Publication forum level 1

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10.1186/1750-1172-9-49

Cite this

Philips, AK., van ESCH, H., Froyen, G., Haas, SA., Hu, H., Kalscheuer, VM., Järvelä, I., Siren, A., Avela, K., Somer, M., Peippo, M., Ahvenainen, M., Doagu, F., Arvio, M., & Kääriäinen, H. (2014). X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. Orphanet Journal of Rare Disease, 9(1), 49. https://doi.org/10.1186/1750-1172-9-49

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title = "X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes",

author = "AK Philips and {van ESCH}, H and G Froyen and SA Haas and H Hu and VM Kalscheuer and I J{\"a}rvel{\"a} and A Siren and K Avela and M Somer and M Peippo and M Ahvenainen and F Doagu and M Arvio and H K{\"a}{\"a}ri{\"a}inen",

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Philips, AK, van ESCH, H, Froyen, G, Haas, SA, Hu, H, Kalscheuer, VM, Järvelä, I, Siren, A, Avela, K, Somer, M, Peippo, M, Ahvenainen, M, Doagu, F, Arvio, M & Kääriäinen, H 2014, 'X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes', Orphanet Journal of Rare Disease, vol. 9, no. 1, pp. 49. https://doi.org/10.1186/1750-1172-9-49

TY - JOUR

T1 - X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes

AU - Philips, AK

AU - van ESCH, H

AU - Froyen, G

AU - Haas, SA

AU - Hu, H

AU - Kalscheuer, VM

AU - Järvelä, I

AU - Siren, A

AU - Avela, K

AU - Somer, M

AU - Peippo, M

AU - Ahvenainen, M

AU - Doagu, F

AU - Arvio, M

AU - Kääriäinen, H

PY - 2014

Y1 - 2014

U2 - 10.1186/1750-1172-9-49

DO - 10.1186/1750-1172-9-49

M3 - Article

SN - 1750-1172

VL - 9

SP - 49

JO - Orphanet Journal of Rare Disease

JF - Orphanet Journal of Rare Disease

IS - 1

ER -