De novo missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila
Publication
, Conference
Straub, J; Konrad, EDH; Gruener, J; Toutain, A; Bok, LA; Cho, MT; Crawford, HP; Dubbs, H; Douglas, G; Jobling, R; Johnson, D; Krock, B ...
Published in: EUROPEAN JOURNAL OF HUMAN GENETICS
July 1, 2019
Duke Scholars
Published In
EUROPEAN JOURNAL OF HUMAN GENETICS
EISSN
1476-5438
ISSN
1018-4813
Publication Date
July 1, 2019
Volume
27
Start / End Page
850 / 851
Location
Milan, ITALY
Publisher
NATURE PUBLISHING GROUP
Conference Name
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)
Related Subject Headings
- Genetics & Heredity
- 3202 Clinical sciences
- 3105 Genetics
- 1103 Clinical Sciences
- 0604 Genetics
Citation
APA
Chicago
ICMJE
MLA
NLM
Straub, J., Konrad, E. D. H., Gruener, J., Toutain, A., Bok, L. A., Cho, M. T., … Zweier, C. (2019). De novo missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila. In EUROPEAN JOURNAL OF HUMAN GENETICS (Vol. 27, pp. 850–851). Milan, ITALY: NATURE PUBLISHING GROUP.
Straub, J., E. D. H. Konrad, J. Gruener, A. Toutain, L. A. Bok, M. T. Cho, H. P. Crawford, et al. “De novo missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila.” In EUROPEAN JOURNAL OF HUMAN GENETICS, 27:850–51. NATURE PUBLISHING GROUP, 2019.
Straub J, Konrad EDH, Gruener J, Toutain A, Bok LA, Cho MT, et al. De novo missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila. In: EUROPEAN JOURNAL OF HUMAN GENETICS. NATURE PUBLISHING GROUP; 2019. p. 850–1.
Straub, J., et al. “De novo missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila.” EUROPEAN JOURNAL OF HUMAN GENETICS, vol. 27, NATURE PUBLISHING GROUP, 2019, pp. 850–51.
Straub J, Konrad EDH, Gruener J, Toutain A, Bok LA, Cho MT, Crawford HP, Dubbs H, Douglas G, Jobling R, Johnson D, Krock B, Mikati MA, Nesbitt A, Nicolai J, Phillips M, Poduri A, Ortiz-Gonzales XR, Powis Z, Santani A, Smith L, Stegmann APA, Stumpel C, Vreeburg M, Study DDD, Fliedner A, Gregor A, Sticht H, Zweier C. De novo missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila. EUROPEAN JOURNAL OF HUMAN GENETICS. NATURE PUBLISHING GROUP; 2019. p. 850–851.
Published In
EUROPEAN JOURNAL OF HUMAN GENETICS
EISSN
1476-5438
ISSN
1018-4813
Publication Date
July 1, 2019
Volume
27
Start / End Page
850 / 851
Location
Milan, ITALY
Publisher
NATURE PUBLISHING GROUP
Conference Name
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)
Related Subject Headings
- Genetics & Heredity
- 3202 Clinical sciences
- 3105 Genetics
- 1103 Clinical Sciences
- 0604 Genetics