| 000 | 02606 a2200865 4500 | ||
|---|---|---|---|
| 005 | 20250516055724.0 | ||
| 264 | 0 | _c20120210 | |
| 008 | 201202s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmedgenet-2011-100218 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMoog, Ute | |
| 245 | 0 | 0 |
_aPhenotypic spectrum associated with CASK loss-of-function mutations. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cNov 2011 |
||
| 300 |
_a741-51 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aBiomarkers _xmetabolism |
| 650 | 0 | 4 |
_aBrain _xmetabolism |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aCohort Studies |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Dosage |
| 650 | 0 | 4 | _aGene Duplication |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aGenetic Variation |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 |
_aGuanylate Kinases _xgenetics |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIn Situ Hybridization, Fluorescence |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aIntellectual Disability _xdiagnosis |
| 650 | 0 | 4 | _aKaryotyping |
| 650 | 0 | 4 |
_aMicrocephaly _xdiagnosis |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aNeuroimaging |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aReal-Time Polymerase Chain Reaction |
| 650 | 0 | 4 | _aSequence Deletion |
| 700 | 1 | _aKutsche, Kerstin | |
| 700 | 1 | _aKortüm, Fanny | |
| 700 | 1 | _aChilian, Bettina | |
| 700 | 1 | _aBierhals, Tatjana | |
| 700 | 1 | _aApeshiotis, Neophytos | |
| 700 | 1 | _aBalg, Stefanie | |
| 700 | 1 | _aChassaing, Nicolas | |
| 700 | 1 | _aCoubes, Christine | |
| 700 | 1 | _aDas, Soma | |
| 700 | 1 | _aEngels, Hartmut | |
| 700 | 1 | _aVan Esch, Hilde | |
| 700 | 1 | _aGrasshoff, Ute | |
| 700 | 1 | _aHeise, Marisol | |
| 700 | 1 | _aIsidor, Bertrand | |
| 700 | 1 | _aJarvis, Joanna | |
| 700 | 1 | _aKoehler, Udo | |
| 700 | 1 | _aMartin, Thomas | |
| 700 | 1 | _aOehl-Jaschkowitz, Barbara | |
| 700 | 1 | _aOrtibus, Els | |
| 700 | 1 | _aPilz, Daniela T | |
| 700 | 1 | _aPrabhakar, Prab | |
| 700 | 1 | _aRappold, Gudrun | |
| 700 | 1 | _aRau, Isabella | |
| 700 | 1 | _aRettenberger, Günther | |
| 700 | 1 | _aSchlüter, Gregor | |
| 700 | 1 | _aScott, Richard H | |
| 700 | 1 | _aShoukier, Moonef | |
| 700 | 1 | _aWohlleber, Eva | |
| 700 | 1 | _aZirn, Birgit | |
| 700 | 1 | _aDobyns, William B | |
| 700 | 1 | _aUyanik, Gökhan | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 48 _gno. 11 _gp. 741-51 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmedgenet-2011-100218 _zAvailable from publisher's website |
| 999 |
_c21191321 _d21191321 |
||