| 000 | 02492 a2200745 4500 | ||
|---|---|---|---|
| 005 | 20250516140000.0 | ||
| 264 | 0 | _c20131018 | |
| 008 | 201310s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmedgenet-2012-101284 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSchmidts, Miriam | |
| 245 | 0 | 0 |
_aExome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cMay 2013 |
||
| 300 |
_a309-23 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aCytoplasmic Dyneins _xchemistry |
| 650 | 0 | 4 |
_aEllis-Van Creveld Syndrome _xgenetics |
| 650 | 0 | 4 |
_aExome _xgenetics |
| 650 | 0 | 4 | _aGene Components |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMicroscopy, Fluorescence |
| 650 | 0 | 4 | _aModels, Molecular |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aPolymorphism, Single Nucleotide _xgenetics |
| 650 | 0 | 4 | _aProtein Conformation |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 700 | 1 | _aArts, Heleen H | |
| 700 | 1 | _aBongers, Ernie M H F | |
| 700 | 1 | _aYap, Zhimin | |
| 700 | 1 | _aOud, Machteld M | |
| 700 | 1 | _aAntony, Dinu | |
| 700 | 1 | _aDuijkers, Lonneke | |
| 700 | 1 | _aEmes, Richard D | |
| 700 | 1 | _aStalker, Jim | |
| 700 | 1 | _aYntema, Jan-Bart L | |
| 700 | 1 | _aPlagnol, Vincent | |
| 700 | 1 | _aHoischen, Alexander | |
| 700 | 1 | _aGilissen, Christian | |
| 700 | 1 | _aForsythe, Elisabeth | |
| 700 | 1 | _aLausch, Ekkehart | |
| 700 | 1 | _aVeltman, Joris A | |
| 700 | 1 | _aRoeleveld, Nel | |
| 700 | 1 | _aSuperti-Furga, Andrea | |
| 700 | 1 | _aKutkowska-Kazmierczak, Anna | |
| 700 | 1 | _aKamsteeg, Erik-Jan | |
| 700 | 1 | _aElçioğlu, Nursel | |
| 700 | 1 | _avan Maarle, Merel C | |
| 700 | 1 | _aGraul-Neumann, Luitgard M | |
| 700 | 1 | _aDevriendt, Koenraad | |
| 700 | 1 | _aSmithson, Sarah F | |
| 700 | 1 | _aWellesley, Diana | |
| 700 | 1 | _aVerbeek, Nienke E | |
| 700 | 1 | _aHennekam, Raoul C M | |
| 700 | 1 | _aKayserili, Hulya | |
| 700 | 1 | _aScambler, Peter J | |
| 700 | 1 | _aBeales, Philip L | |
| 700 | 1 | _aKnoers, Nine Vam | |
| 700 | 1 | _aRoepman, Ronald | |
| 700 | 1 | _aMitchison, Hannah M | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 50 _gno. 5 _gp. 309-23 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmedgenet-2012-101284 _zAvailable from publisher's website |
| 999 |
_c22549594 _d22549594 |
||