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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 04364naa a2201477 4500 | |
| 001 | oai:prod.swepub.kib.ki.se:140457584 | |
| 003 | SwePub | |
| 008 | 240701s2019 | |||||||||||000 ||eng| | |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1404575842 URI |
| 024 | 7 | a https://doi.org/10.1016/j.ajhg.2019.02.0152 DOI |
| 040 | a (SwePub)ki | |
| 041 | a eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a vet2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Helbig, KL4 aut |
| 245 | 1 0 | a De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias |
| 264 | 1 | b Elsevier BV,c 2019 |
| 700 | 1 | a Lauerer, RJ4 aut |
| 700 | 1 | a Bahr, JC4 aut |
| 700 | 1 | a Souza, IA4 aut |
| 700 | 1 | a Myers, CT4 aut |
| 700 | 1 | a Uysal, B4 aut |
| 700 | 1 | a Schwarz, N4 aut |
| 700 | 1 | a Gandini, MA4 aut |
| 700 | 1 | a Huang, S4 aut |
| 700 | 1 | a Keren, B4 aut |
| 700 | 1 | a Mignot, C4 aut |
| 700 | 1 | a Afenjar, A4 aut |
| 700 | 1 | a de Villemeur, TB4 aut |
| 700 | 1 | a Heron, D4 aut |
| 700 | 1 | a Nava, C4 aut |
| 700 | 1 | a Valence, S4 aut |
| 700 | 1 | a Buratti, J4 aut |
| 700 | 1 | a Fagerberg, CR4 aut |
| 700 | 1 | a Soerensen, KP4 aut |
| 700 | 1 | a Kibaek, M4 aut |
| 700 | 1 | a Kamsteeg, EJ4 aut |
| 700 | 1 | a Koolen, DA4 aut |
| 700 | 1 | a Gunning, B4 aut |
| 700 | 1 | a Schelhaas, HJ4 aut |
| 700 | 1 | a Kruer, MC4 aut |
| 700 | 1 | a Fox, J4 aut |
| 700 | 1 | a Bakhtiari, S4 aut |
| 700 | 1 | a Jarrar, R4 aut |
| 700 | 1 | a Padilla-Lopez, S4 aut |
| 700 | 1 | a Lindstrom, K4 aut |
| 700 | 1 | a Jin, SC4 aut |
| 700 | 1 | a Zeng, X4 aut |
| 700 | 1 | a Bilguvar, K4 aut |
| 700 | 1 | a Papavasileiou, A4 aut |
| 700 | 1 | a Xing, QH4 aut |
| 700 | 1 | a Zhu, CL4 aut |
| 700 | 1 | a Boysen, K4 aut |
| 700 | 1 | a Vairo, F4 aut |
| 700 | 1 | a Lanpher, BC4 aut |
| 700 | 1 | a Klee, EW4 aut |
| 700 | 1 | a Tillema, JM4 aut |
| 700 | 1 | a Payne, ET4 aut |
| 700 | 1 | a Cousin, MA4 aut |
| 700 | 1 | a Kruisselbrink, TM4 aut |
| 700 | 1 | a Wick, MJ4 aut |
| 700 | 1 | a Baker, J4 aut |
| 700 | 1 | a Haan, E4 aut |
| 700 | 1 | a Smith, N4 aut |
| 700 | 1 | a Sadeghpour, A4 aut |
| 700 | 1 | a Davis, EE4 aut |
| 700 | 1 | a Katsanis, N4 aut |
| 700 | 1 | a Corbett, MA4 aut |
| 700 | 1 | a MacLennan, AH4 aut |
| 700 | 1 | a Gecz, J4 aut |
| 700 | 1 | a Biskup, S4 aut |
| 700 | 1 | a Goldmann, E4 aut |
| 700 | 1 | a Rodan, LH4 aut |
| 700 | 1 | a Kichula, E4 aut |
| 700 | 1 | a Segal, E4 aut |
| 700 | 1 | a Jackson, KE4 aut |
| 700 | 1 | a Asamoah, A4 aut |
| 700 | 1 | a Dimmock, D4 aut |
| 700 | 1 | a McCarrier, J4 aut |
| 700 | 1 | a Botto, LD4 aut |
| 700 | 1 | a Filloux, F4 aut |
| 700 | 1 | a Tvrdik, T4 aut |
| 700 | 1 | a Cascino, GD4 aut |
| 700 | 1 | a Klingerman, S4 aut |
| 700 | 1 | a Neumann, C4 aut |
| 700 | 1 | a Wang, R4 aut |
| 700 | 1 | a Jacobsen, JC4 aut |
| 700 | 1 | a Nolan, MA4 aut |
| 700 | 1 | a Snell, RG4 aut |
| 700 | 1 | a Lehnert, K4 aut |
| 700 | 1 | a Sadleir, LG4 aut |
| 700 | 1 | a Anderlid, BMu Karolinska Institutet4 aut |
| 700 | 1 | a Kvarnung, M4 aut |
| 700 | 1 | a Guerrini, R4 aut |
| 700 | 1 | a Friez, MJ4 aut |
| 700 | 1 | a Lyons, MJ4 aut |
| 700 | 1 | a Leonhard, J4 aut |
| 700 | 1 | a Kringlen, G4 aut |
| 700 | 1 | a Casas, K4 aut |
| 700 | 1 | a El Achkar, CM4 aut |
| 700 | 1 | a Smith, LA4 aut |
| 700 | 1 | a Rotenberg, A4 aut |
| 700 | 1 | a Poduri, A4 aut |
| 700 | 1 | a Sanchis-Juan, A4 aut |
| 700 | 1 | a Carss, KJ4 aut |
| 700 | 1 | a Rankin, J4 aut |
| 700 | 1 | a Zeman, A4 aut |
| 700 | 1 | a Raymond, FL4 aut |
| 700 | 1 | a Blyth, M4 aut |
| 700 | 1 | a Kerr, B4 aut |
| 700 | 1 | a Ruiz, K4 aut |
| 700 | 1 | a Urquhart, J4 aut |
| 700 | 1 | a Hughes, I4 aut |
| 700 | 1 | a Banka, S4 aut |
| 700 | 1 | a Hedrich, UBS4 aut |
| 700 | 1 | a Scheffer, IE4 aut |
| 700 | 1 | a Helbig, I4 aut |
| 700 | 1 | a Zamponi, GW4 aut |
| 700 | 1 | a Lerche, H4 aut |
| 700 | 1 | a Mefford, HC4 aut |
| 710 | 2 | a Karolinska Institutet4 org |
| 773 | 0 | t American journal of human geneticsd : Elsevier BVg 104:3, s. 562-562q 104:3<562-562x 1537-6605x 0002-9297 |
| 856 | 4 | u http://www.cell.com/article/S0002929719300606/pdf |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:140457584 |
| 856 | 4 8 | u https://doi.org/10.1016/j.ajhg.2019.02.015 |
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- Helbig, KL
- Lauerer, RJ
- Bahr, JC
- Souza, IA
- Myers, CT
- Uysal, B
- visa fler...
- Schwarz, N
- Gandini, MA
- Huang, S
- Keren, B
- Mignot, C
- Afenjar, A
- de Villemeur, TB
- Heron, D
- Nava, C
- Valence, S
- Buratti, J
- Fagerberg, CR
- Soerensen, KP
- Kibaek, M
- Kamsteeg, EJ
- Koolen, DA
- Gunning, B
- Schelhaas, HJ
- Kruer, MC
- Fox, J
- Bakhtiari, S
- Jarrar, R
- Padilla-Lopez, S
- Lindstrom, K
- Jin, SC
- Zeng, X
- Bilguvar, K
- Papavasileiou, A
- Xing, QH
- Zhu, CL
- Boysen, K
- Vairo, F
- Lanpher, BC
- Klee, EW
- Tillema, JM
- Payne, ET
- Cousin, MA
- Kruisselbrink, T ...
- Wick, MJ
- Baker, J
- Haan, E
- Smith, N
- Sadeghpour, A
- Davis, EE
- Katsanis, N
- Corbett, MA
- MacLennan, AH
- Gecz, J
- Biskup, S
- Goldmann, E
- Rodan, LH
- Kichula, E
- Segal, E
- Jackson, KE
- Asamoah, A
- Dimmock, D
- McCarrier, J
- Botto, LD
- Filloux, F
- Tvrdik, T
- Cascino, GD
- Klingerman, S
- Neumann, C
- Wang, R
- Jacobsen, JC
- Nolan, MA
- Snell, RG
- Lehnert, K
- Sadleir, LG
- Anderlid, BM
- Kvarnung, M
- Guerrini, R
- Friez, MJ
- Lyons, MJ
- Leonhard, J
- Kringlen, G
- Casas, K
- El Achkar, CM
- Smith, LA
- Rotenberg, A
- Poduri, A
- Sanchis-Juan, A
- Carss, KJ
- Rankin, J
- Zeman, A
- Raymond, FL
- Blyth, M
- Kerr, B
- Ruiz, K
- Urquhart, J
- Hughes, I
- Banka, S
- Hedrich, UBS
- Scheffer, IE
- Helbig, I
- Zamponi, GW
- Lerche, H
- Mefford, HC
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