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Pitfalls in genetic testing: the story of missed SCN1A muta..:

Djémié, T ; Weckhuysen, S ; von Spiczak, S...
https://discovery.ucl.ac.uk/id/eprint/1508807/1/Leu_pitfalls%20in%20genetic%20testing_missed%20SCN1A.pdf. , 2016

Link: https://discovery.ucl.ac.uk/id/eprint/1508807/1/Leu_pi..

RT Journal
T1 <Title>Pitfalls in genetic testing: the story of missed SCN1A mutations</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftucl:oai:eprints.ucl.ac.uk.OAI2:1508807&Exemplar=1&LAN=DE
				
A1 Djémié, T
A1 Weckhuysen, S
A1 von Spiczak, S
A1 Carvill, GL
A1 Jaehn, J
A1 Anttonen, A-K
A1 Brilstra, E
A1 Caglayan, HS
A1 de Kovel, CG
A1 Depienne, C
A1 Gaily, E
A1 Gennaro, E
A1 Giraldez, BG
A1 Gormley, P
A1 Guerrero-López, R
A1 Guerrini, R
A1 Hämäläinen, E
A1 Hartmann, C
A1 Hernandez-Hernandez, L
A1 Hjalgrim, H
A1 Koeleman, BPC
A1 Leguern, E
A1 Lehesjoki, A-E
A1 Lemke, JR
A1 Leu, C
A1 Marini, C
A1 McMahon, JM
A1 Mei, D
A1 Møller, RS
A1 Muhle, H
A1 Myers, CT
A1 Nava, C
A1 Serratosa, JM
A1 Sisodiya, SM
A1 Stephani, U
A1 Striano, P
A1 van Kempen, MJA
A1 Verbeek, NE
A1 Usluer, S
A1 Zara, F
A1 Palotie, A
A1 Mefford, HC
A1 Scheffer, IE
A1 De Jonghe, P
A1 Helbig, I
A1 Suls, A
A1 EuroEPINOMICS‐RES Dravet working group
YR 2016
K1 Dravet syndrome
K1 Sanger sequencing
K1 epilepsy
K1 genetic screening
K1 next‐generation sequencing
JF https://discovery.ucl.ac.uk/id/eprint/1508807/1/Leu_pitfalls%20in%20genetic%20testing_missed%20SCN1A.pdf
LK http://dx.doi.org/https://discovery.ucl.ac.uk/id/eprint/1508807/1/Leu_pitfalls%20in%20genetic%20testing_missed%20SCN1A.pdf
DO https://discovery.ucl.ac.uk/id/eprint/1508807/1/Leu_pitfalls%20in%20genetic%20testing_missed%20SCN1A.pdf
SF ELIB - SuUB Bremen

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