| 000 | 02620 a2200805 4500 | ||
|---|---|---|---|
| 005 | 20250517124319.0 | ||
| 264 | 0 | _c20170705 | |
| 008 | 201707s 0 0 eng d | ||
| 022 | _a1476-5438 | ||
| 024 | 7 |
_a10.1038/ejhg.2016.146 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aTrujillano, Daniel | |
| 245 | 0 | 0 |
_aClinical exome sequencing: results from 2819 samples reflecting 1000 families. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _c02 2017 |
||
| 300 |
_a176-182 p. _bdigital |
||
| 500 | _aPublication Type: Evaluation Study; Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFlavoproteins _xgenetics |
| 650 | 0 | 4 |
_aGenetic Testing _xmethods |
| 650 | 0 | 4 |
_aGenotyping Techniques _xmethods |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 |
_aIntracellular Signaling Peptides and Proteins _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 |
_aMitochondrial Proteins _xgenetics |
| 650 | 0 | 4 |
_aNAV1.3 Voltage-Gated Sodium Channel _xgenetics |
| 650 | 0 | 4 | _aNuclear Family |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPotassium Channels _xgenetics |
| 650 | 0 | 4 |
_aProtein Tyrosine Phosphatases, Non-Receptor _xgenetics |
| 650 | 0 | 4 |
_aProtoporphyrinogen Oxidase _xgenetics |
| 650 | 0 | 4 |
_aSequence Analysis, DNA _xmethods |
| 650 | 0 | 4 |
_aSodium Channels _xgenetics |
| 650 | 0 | 4 |
_aVoltage-Gated Sodium Channel beta-1 Subunit _xgenetics |
| 700 | 1 | _aBertoli-Avella, Aida M | |
| 700 | 1 | _aKumar Kandaswamy, Krishna | |
| 700 | 1 | _aWeiss, Maximilian Er | |
| 700 | 1 | _aKöster, Julia | |
| 700 | 1 | _aMarais, Anett | |
| 700 | 1 | _aPaknia, Omid | |
| 700 | 1 | _aSchröder, Rolf | |
| 700 | 1 | _aGarcia-Aznar, Jose Maria | |
| 700 | 1 | _aWerber, Martin | |
| 700 | 1 | _aBrandau, Oliver | |
| 700 | 1 | _aCalvo Del Castillo, Maria | |
| 700 | 1 | _aBaldi, Caterina | |
| 700 | 1 | _aWessel, Karen | |
| 700 | 1 | _aKishore, Shivendra | |
| 700 | 1 | _aNahavandi, Nahid | |
| 700 | 1 | _aEyaid, Wafaa | |
| 700 | 1 | _aAl Rifai, Muhammad Talal | |
| 700 | 1 | _aAl-Rumayyan, Ahmed | |
| 700 | 1 | _aAl-Twaijri, Waleed | |
| 700 | 1 | _aAlothaim, Ali | |
| 700 | 1 | _aAlhashem, Amal | |
| 700 | 1 | _aAl-Sannaa, Nouriya | |
| 700 | 1 | _aAl-Balwi, Mohammed | |
| 700 | 1 | _aAlfadhel, Majid | |
| 700 | 1 | _aRolfs, Arndt | |
| 700 | 1 | _aAbou Jamra, Rami | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 25 _gno. 2 _gp. 176-182 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2016.146 _zAvailable from publisher's website |
| 999 |
_c26607837 _d26607837 |
||