| 000 | 04845 a2201633 4500 | ||
|---|---|---|---|
| 005 | 20250518003543.0 | ||
| 264 | 0 | _c20190514 | |
| 008 | 201905s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2018.09.006 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHelbig, Katherine L | |
| 245 | 0 | 0 |
_aDe Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _c11 2018 |
||
| 300 |
_a666-678 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aCalcium Channels, R-Type _xgenetics |
| 650 | 0 | 4 |
_aCation Transport Proteins _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aContracture _xgenetics |
| 650 | 0 | 4 |
_aDyskinesias _xgenetics |
| 650 | 0 | 4 |
_aEpilepsy _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenetic Variation _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMegalencephaly _xgenetics |
| 650 | 0 | 4 |
_aNeurodevelopmental Disorders _xgenetics |
| 650 | 0 | 4 |
_aSpasms, Infantile _xgenetics |
| 700 | 1 | _aLauerer, Robert J | |
| 700 | 1 | _aBahr, Jacqueline C | |
| 700 | 1 | _aSouza, Ivana A | |
| 700 | 1 | _aMyers, Candace T | |
| 700 | 1 | _aUysal, Betül | |
| 700 | 1 | _aSchwarz, Niklas | |
| 700 | 1 | _aGandini, Maria A | |
| 700 | 1 | _aHuang, Sun | |
| 700 | 1 | _aKeren, Boris | |
| 700 | 1 | _aMignot, Cyril | |
| 700 | 1 | _aAfenjar, Alexandra | |
| 700 | 1 | _aBillette de Villemeur, Thierry | |
| 700 | 1 | _aHéron, Delphine | |
| 700 | 1 | _aNava, Caroline | |
| 700 | 1 | _aValence, Stéphanie | |
| 700 | 1 | _aBuratti, Julien | |
| 700 | 1 | _aFagerberg, Christina R | |
| 700 | 1 | _aSoerensen, Kristina P | |
| 700 | 1 | _aKibaek, Maria | |
| 700 | 1 | _aKamsteeg, Erik-Jan | |
| 700 | 1 | _aKoolen, David A | |
| 700 | 1 | _aGunning, Boudewijn | |
| 700 | 1 | _aSchelhaas, H Jurgen | |
| 700 | 1 | _aKruer, Michael C | |
| 700 | 1 | _aFox, Jordana | |
| 700 | 1 | _aBakhtiari, Somayeh | |
| 700 | 1 | _aJarrar, Randa | |
| 700 | 1 | _aPadilla-Lopez, Sergio | |
| 700 | 1 | _aLindstrom, Kristin | |
| 700 | 1 | _aJin, Sheng Chih | |
| 700 | 1 | _aZeng, Xue | |
| 700 | 1 | _aBilguvar, Kaya | |
| 700 | 1 | _aPapavasileiou, Antigone | |
| 700 | 1 | _aXing, Qinghe | |
| 700 | 1 | _aZhu, Changlian | |
| 700 | 1 | _aBoysen, Katja | |
| 700 | 1 | _aVairo, Filippo | |
| 700 | 1 | _aLanpher, Brendan C | |
| 700 | 1 | _aKlee, Eric W | |
| 700 | 1 | _aTillema, Jan-Mendelt | |
| 700 | 1 | _aPayne, Eric T | |
| 700 | 1 | _aCousin, Margot A | |
| 700 | 1 | _aKruisselbrink, Teresa M | |
| 700 | 1 | _aWick, Myra J | |
| 700 | 1 | _aBaker, Joshua | |
| 700 | 1 | _aHaan, Eric | |
| 700 | 1 | _aSmith, Nicholas | |
| 700 | 1 | _aSadeghpour, Azita | |
| 700 | 1 | _aDavis, Erica E | |
| 700 | 1 | _aKatsanis, Nicholas | |
| 700 | 1 | _aCorbett, Mark A | |
| 700 | 1 | _aMacLennan, Alastair H | |
| 700 | 1 | _aGecz, Jozef | |
| 700 | 1 | _aBiskup, Saskia | |
| 700 | 1 | _aGoldmann, Eva | |
| 700 | 1 | _aRodan, Lance H | |
| 700 | 1 | _aKichula, Elizabeth | |
| 700 | 1 | _aSegal, Eric | |
| 700 | 1 | _aJackson, Kelly E | |
| 700 | 1 | _aAsamoah, Alexander | |
| 700 | 1 | _aDimmock, David | |
| 700 | 1 | _aMcCarrier, Julie | |
| 700 | 1 | _aBotto, Lorenzo D | |
| 700 | 1 | _aFilloux, Francis | |
| 700 | 1 | _aTvrdik, Tatiana | |
| 700 | 1 | _aCascino, Gregory D | |
| 700 | 1 | _aKlingerman, Sherry | |
| 700 | 1 | _aNeumann, Catherine | |
| 700 | 1 | _aWang, Raymond | |
| 700 | 1 | _aJacobsen, Jessie C | |
| 700 | 1 | _aNolan, Melinda A | |
| 700 | 1 | _aSnell, Russell G | |
| 700 | 1 | _aLehnert, Klaus | |
| 700 | 1 | _aSadleir, Lynette G | |
| 700 | 1 | _aAnderlid, Britt-Marie | |
| 700 | 1 | _aKvarnung, Malin | |
| 700 | 1 | _aGuerrini, Renzo | |
| 700 | 1 | _aFriez, Michael J | |
| 700 | 1 | _aLyons, Michael J | |
| 700 | 1 | _aLeonhard, Jennifer | |
| 700 | 1 | _aKringlen, Gabriel | |
| 700 | 1 | _aCasas, Kari | |
| 700 | 1 | _aEl Achkar, Christelle M | |
| 700 | 1 | _aSmith, Lacey A | |
| 700 | 1 | _aRotenberg, Alexander | |
| 700 | 1 | _aPoduri, Annapurna | |
| 700 | 1 | _aSanchis-Juan, Alba | |
| 700 | 1 | _aCarss, Keren J | |
| 700 | 1 | _aRankin, Julia | |
| 700 | 1 | _aZeman, Adam | |
| 700 | 1 | _aRaymond, F Lucy | |
| 700 | 1 | _aBlyth, Moira | |
| 700 | 1 | _aKerr, Bronwyn | |
| 700 | 1 | _aRuiz, Karla | |
| 700 | 1 | _aUrquhart, Jill | |
| 700 | 1 | _aHughes, Imelda | |
| 700 | 1 | _aBanka, Siddharth | |
| 700 | 1 | _aHedrich, Ulrike B S | |
| 700 | 1 | _aScheffer, Ingrid E | |
| 700 | 1 | _aHelbig, Ingo | |
| 700 | 1 | _aZamponi, Gerald W | |
| 700 | 1 | _aLerche, Holger | |
| 700 | 1 | _aMefford, Heather C | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 103 _gno. 5 _gp. 666-678 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2018.09.006 _zAvailable from publisher's website |
| 999 |
_c28961504 _d28961504 |
||