A homozygous two exon deletion in UQCRH: matching mouse and human phenotype

Silvia Vidali; J Urquhart; J Rozman; K Thompson; C Sanders; E Jamson; C Breen; B Rathkolb; P da Silva-Buttkus; S Marschall; OV Amarie; J Aguilar-Pimentel; J Calzada-Wack; L Becker; Y Cho; L Garrett; SM Holter; T Klein-Rodewald; P Mayer-Kuckuk; I Treise; A Zimprich; K Gampe; S Leuchtenberger; K Pfannes; C Stoger; H Maier; J Graw; W Wurst; K Hofig; René Feichtinger; U Gartner; M Szibor; I Wittig; Johannes A. Mayr; W Newman; H Fuchs; RW Taylor; V Gailus-Durner; H Prokisch; MH de Angelis

A homozygous two exon deletion in UQCRH: matching mouse and human phenotype

Silvia Vidali, J Urquhart, J Rozman, K Thompson, C Sanders, E Jamson, C Breen, B Rathkolb, P da Silva-Buttkus, S Marschall, OV Amarie, J Aguilar-Pimentel, J Calzada-Wack, L Becker, Y Cho, L Garrett, SM Holter, T Klein-Rodewald, P Mayer-Kuckuk, I TreiseA Zimprich, K Gampe, S Leuchtenberger, K Pfannes, C Stoger, H Maier, J Graw, W Wurst, K Hofig, René Feichtinger, U Gartner, M Szibor, I Wittig, Johannes A. Mayr, W Newman, H Fuchs, RW Taylor, V Gailus-Durner, H Prokisch, MH de Angelis

Research output: Contribution to journal › Abstract (Journal) › peer-review

Original language	English
Pages (from-to)	818-819
Journal	EUROPEAN JOURNAL OF HUMAN GENETICS
Volume	27
Publication status	Published - 2019
Event	51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG) - Milan, ITALY Duration: 16 Jun 2018 → 19 Jun 2018

Cite this

Vidali, S., Urquhart, J., Rozman, J., Thompson, K., Sanders, C., Jamson, E., Breen, C., Rathkolb, B., da Silva-Buttkus, P., Marschall, S., Amarie, OV., Aguilar-Pimentel, J., Calzada-Wack, J., Becker, L., Cho, Y., Garrett, L., Holter, SM., Klein-Rodewald, T., Mayer-Kuckuk, P., ... de Angelis, MH. (2019). A homozygous two exon deletion in UQCRH: matching mouse and human phenotype. EUROPEAN JOURNAL OF HUMAN GENETICS , 27, 818-819.

Vidali, Silvia ; Urquhart, J ; Rozman, J et al. / A homozygous two exon deletion in UQCRH: matching mouse and human phenotype. In: EUROPEAN JOURNAL OF HUMAN GENETICS 2019 ; Vol. 27. pp. 818-819.

@article{0f3b2ea0e1314ef49ad294c79522d878,

title = "A homozygous two exon deletion in UQCRH: matching mouse and human phenotype",

author = "Silvia Vidali and J Urquhart and J Rozman and K Thompson and C Sanders and E Jamson and C Breen and B Rathkolb and {da Silva-Buttkus}, P and S Marschall and OV Amarie and J Aguilar-Pimentel and J Calzada-Wack and L Becker and Y Cho and L Garrett and SM Holter and T Klein-Rodewald and P Mayer-Kuckuk and I Treise and A Zimprich and K Gampe and S Leuchtenberger and K Pfannes and C Stoger and H Maier and J Graw and W Wurst and K Hofig and Ren{\'e} Feichtinger and U Gartner and M Szibor and I Wittig and Mayr, {Johannes A.} and W Newman and H Fuchs and RW Taylor and V Gailus-Durner and H Prokisch and {de Angelis}, MH",

year = "2019",

language = "English",

volume = "27",

pages = "818--819",

journal = "EUROPEAN JOURNAL OF HUMAN GENETICS ",

issn = "1018-4813",

publisher = "Springer Nature",

note = "51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG) ; Conference date: 16-06-2018 Through 19-06-2018",

}

Vidali, S, Urquhart, J, Rozman, J, Thompson, K, Sanders, C, Jamson, E, Breen, C, Rathkolb, B, da Silva-Buttkus, P, Marschall, S, Amarie, OV, Aguilar-Pimentel, J, Calzada-Wack, J, Becker, L, Cho, Y, Garrett, L, Holter, SM, Klein-Rodewald, T, Mayer-Kuckuk, P, Treise, I, Zimprich, A, Gampe, K, Leuchtenberger, S, Pfannes, K, Stoger, C, Maier, H, Graw, J, Wurst, W, Hofig, K, Feichtinger, R, Gartner, U, Szibor, M, Wittig, I, Mayr, JA, Newman, W, Fuchs, H, Taylor, RW, Gailus-Durner, V, Prokisch, H & de Angelis, MH 2019, 'A homozygous two exon deletion in UQCRH: matching mouse and human phenotype', EUROPEAN JOURNAL OF HUMAN GENETICS , vol. 27, pp. 818-819.

A homozygous two exon deletion in UQCRH: matching mouse and human phenotype. / Vidali, Silvia; Urquhart, J; Rozman, J et al.
In: EUROPEAN JOURNAL OF HUMAN GENETICS , Vol. 27, 2019, p. 818-819.

Research output: Contribution to journal › Abstract (Journal) › peer-review

TY - JOUR

T1 - A homozygous two exon deletion in UQCRH: matching mouse and human phenotype

AU - Vidali, Silvia

AU - Urquhart, J

AU - Rozman, J

AU - Thompson, K

AU - Sanders, C

AU - Jamson, E

AU - Breen, C

AU - Rathkolb, B

AU - da Silva-Buttkus, P

AU - Marschall, S

AU - Amarie, OV

AU - Aguilar-Pimentel, J

AU - Calzada-Wack, J

AU - Becker, L

AU - Cho, Y

AU - Garrett, L

AU - Holter, SM

AU - Klein-Rodewald, T

AU - Mayer-Kuckuk, P

AU - Treise, I

AU - Zimprich, A

AU - Gampe, K

AU - Leuchtenberger, S

AU - Pfannes, K

AU - Stoger, C

AU - Maier, H

AU - Graw, J

AU - Wurst, W

AU - Hofig, K

AU - Feichtinger, René

AU - Gartner, U

AU - Szibor, M

AU - Wittig, I

AU - Mayr, Johannes A.

AU - Newman, W

AU - Fuchs, H

AU - Taylor, RW

AU - Gailus-Durner, V

AU - Prokisch, H

AU - de Angelis, MH

PY - 2019

Y1 - 2019

M3 - Abstract (Journal)

SN - 1018-4813

VL - 27

SP - 818

EP - 819

JO - EUROPEAN JOURNAL OF HUMAN GENETICS

JF - EUROPEAN JOURNAL OF HUMAN GENETICS

T2 - 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)

Y2 - 16 June 2018 through 19 June 2018

ER -

Vidali S, Urquhart J, Rozman J, Thompson K, Sanders C, Jamson E et al. A homozygous two exon deletion in UQCRH: matching mouse and human phenotype. EUROPEAN JOURNAL OF HUMAN GENETICS . 2019;27:818-819.