| 000 | 02798 a2200889 4500 | ||
|---|---|---|---|
| 005 | 20250517111816.0 | ||
| 264 | 0 | _c20170502 | |
| 008 | 201705s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2016.06.025 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLodder, Elisabeth M | |
| 245 | 0 | 0 |
_aGNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _c09 2016 |
||
| 300 |
_a704-710 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 |
_aBradycardia _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aDevelopmental Disabilities _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGTP-Binding Protein beta Subunits _xdeficiency |
| 650 | 0 | 4 |
_aGastroesophageal Reflux _xgenetics |
| 650 | 0 | 4 | _aGene Deletion |
| 650 | 0 | 4 |
_aGenes, Recessive _xgenetics |
| 650 | 0 | 4 |
_aHeart Rate _xgenetics |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMuscle Hypotonia _xgenetics |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aRetinal Diseases _xgenetics |
| 650 | 0 | 4 |
_aSeizures _xgenetics |
| 650 | 0 | 4 |
_aSinoatrial Node _xphysiopathology |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 | _aYoung Adult |
| 650 | 0 | 4 |
_aZebrafish _xgenetics |
| 650 | 0 | 4 | _aZebrafish Proteins |
| 700 | 1 | _aDe Nittis, Pasquelena | |
| 700 | 1 | _aKoopman, Charlotte D | |
| 700 | 1 | _aWiszniewski, Wojciech | |
| 700 | 1 | _aMoura de Souza, Carolina Fischinger | |
| 700 | 1 | _aLahrouchi, Najim | |
| 700 | 1 | _aGuex, Nicolas | |
| 700 | 1 | _aNapolioni, Valerio | |
| 700 | 1 | _aTessadori, Federico | |
| 700 | 1 | _aBeekman, Leander | |
| 700 | 1 | _aNannenberg, Eline A | |
| 700 | 1 | _aBoualla, Lamiae | |
| 700 | 1 | _aBlom, Nico A | |
| 700 | 1 | _ade Graaff, Wim | |
| 700 | 1 | _aKamermans, Maarten | |
| 700 | 1 | _aCocciadiferro, Dario | |
| 700 | 1 | _aMalerba, Natascia | |
| 700 | 1 | _aMandriani, Barbara | |
| 700 | 1 | _aAkdemir, Zeynep Hande Coban | |
| 700 | 1 | _aFish, Richard J | |
| 700 | 1 | _aEldomery, Mohammad K | |
| 700 | 1 | _aRatbi, Ilham | |
| 700 | 1 | _aWilde, Arthur A M | |
| 700 | 1 | _ade Boer, Teun | |
| 700 | 1 | _aSimonds, William F | |
| 700 | 1 | _aNeerman-Arbez, Marguerite | |
| 700 | 1 | _aSutton, V Reid | |
| 700 | 1 | _aKok, Fernando | |
| 700 | 1 | _aLupski, James R | |
| 700 | 1 | _aReymond, Alexandre | |
| 700 | 1 | _aBezzina, Connie R | |
| 700 | 1 | _aBakkers, Jeroen | |
| 700 | 1 | _aMerla, Giuseppe | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 99 _gno. 3 _gp. 704-710 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2016.06.025 _zAvailable from publisher's website |
| 999 |
_c26327158 _d26327158 |
||