| 000 | 02399 a2200733 4500 | ||
|---|---|---|---|
| 005 | 20250517131715.0 | ||
| 264 | 0 | _c20170807 | |
| 008 | 201708s 0 0 eng d | ||
| 022 | _a1476-5438 | ||
| 024 | 7 |
_a10.1038/ejhg.2016.182 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aZazo Seco, Celia | |
| 245 | 0 | 0 |
_aThe diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _c02 2017 |
||
| 300 |
_a308-314 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aConnexin 26 |
| 650 | 0 | 4 |
_aConnexins _xgenetics |
| 650 | 0 | 4 | _aDNA Copy Number Variations |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 |
_aExtracellular Matrix Proteins _xgenetics |
| 650 | 0 | 4 |
_aGPI-Linked Proteins _xgenetics |
| 650 | 0 | 4 |
_aGenetic Testing _xstandards |
| 650 | 0 | 4 |
_aHearing Loss _xdiagnosis |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIntercellular Signaling Peptides and Proteins |
| 650 | 0 | 4 |
_aMembrane Proteins _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aMyosin Heavy Chains _xgenetics |
| 650 | 0 | 4 |
_aMyosins _xgenetics |
| 650 | 0 | 4 | _aNetherlands |
| 650 | 0 | 4 |
_aSequence Analysis, DNA _xstandards |
| 700 | 1 | _aWesdorp, Mieke | |
| 700 | 1 | _aFeenstra, Ilse | |
| 700 | 1 | _aPfundt, Rolph | |
| 700 | 1 | _aHehir-Kwa, Jayne Y | |
| 700 | 1 | _aLelieveld, Stefan H | |
| 700 | 1 | _aCastelein, Steven | |
| 700 | 1 | _aGilissen, Christian | |
| 700 | 1 | _ade Wijs, Ilse J | |
| 700 | 1 | _aAdmiraal, Ronald Jc | |
| 700 | 1 | _aPennings, Ronald Je | |
| 700 | 1 | _aKunst, Henricus Pm | |
| 700 | 1 | _avan de Kamp, Jiddeke M | |
| 700 | 1 | _aTamminga, Saskia | |
| 700 | 1 | _aHouweling, Arjan C | |
| 700 | 1 | _aPlomp, Astrid S | |
| 700 | 1 | _aMaas, Saskia M | |
| 700 | 1 | _ade Koning Gans, Pia Am | |
| 700 | 1 | _aKant, Sarina G | |
| 700 | 1 | _ade Geus, Christa M | |
| 700 | 1 | _aFrints, Suzanna Gm | |
| 700 | 1 | _aVanhoutte, Els K | |
| 700 | 1 | _avan Dooren, Marieke F | |
| 700 | 1 | _avan den Boogaard, Marie-José H | |
| 700 | 1 | _aScheffer, Hans | |
| 700 | 1 | _aNelen, Marcel | |
| 700 | 1 | _aKremer, Hannie | |
| 700 | 1 | _aHoefsloot, Lies | |
| 700 | 1 | _aSchraders, Margit | |
| 700 | 1 | _aYntema, Helger G | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 25 _gno. 3 _gp. 308-314 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2016.182 _zAvailable from publisher's website |
| 999 |
_c26719010 _d26719010 |
||