| 000 | 02951 a2200985 4500 | ||
|---|---|---|---|
| 005 | 20250517154818.0 | ||
| 264 | 0 | _c20171201 | |
| 008 | 201712s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.38279 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHuisman, Sylvia | |
| 245 | 0 | 0 |
_aPhenotypes and genotypes in individuals with SMC1A variants. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cAug 2017 |
||
| 300 |
_a2108-2125 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aCell Cycle Proteins _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aChromosomal Proteins, Non-Histone _xgenetics |
| 650 | 0 | 4 |
_aDe Lange Syndrome _xdiagnosis |
| 650 | 0 | 4 |
_aExome _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 |
_aNetherlands _xepidemiology |
| 650 | 0 | 4 |
_aProteins _xgenetics |
| 650 | 0 | 4 |
_aRett Syndrome _xdiagnosis |
| 650 | 0 | 4 |
_aSpasms, Infantile _xdiagnosis |
| 650 | 0 | 4 | _aYoung Adult |
| 650 | 0 | 4 | _aStructural Maintenance of Chromosome Protein 1 |
| 700 | 1 | _aMulder, Paul A | |
| 700 | 1 | _aRedeker, Egbert | |
| 700 | 1 | _aBader, Ingrid | |
| 700 | 1 | _aBisgaard, Anne-Marie | |
| 700 | 1 | _aBrooks, Alice | |
| 700 | 1 | _aCereda, Anna | |
| 700 | 1 | _aCinca, Constanza | |
| 700 | 1 | _aClark, Dinah | |
| 700 | 1 | _aCormier-Daire, Valerie | |
| 700 | 1 | _aDeardorff, Matthew A | |
| 700 | 1 | _aDiderich, Karin | |
| 700 | 1 | _aElting, Mariet | |
| 700 | 1 | _avan Essen, Anthonie | |
| 700 | 1 | _aFitzPatrick, David | |
| 700 | 1 | _aGervasini, Cristina | |
| 700 | 1 | _aGillessen-Kaesbach, Gabriele | |
| 700 | 1 | _aGirisha, Katta M | |
| 700 | 1 | _aHilhorst-Hofstee, Yvonne | |
| 700 | 1 | _aHopman, Saskia | |
| 700 | 1 | _aHorn, Denise | |
| 700 | 1 | _aIsrie, Mala | |
| 700 | 1 | _aJansen, Sandra | |
| 700 | 1 | _aJespersgaard, Cathrine | |
| 700 | 1 | _aKaiser, Frank J | |
| 700 | 1 | _aKaur, Maninder | |
| 700 | 1 | _aKleefstra, Tjitske | |
| 700 | 1 | _aKrantz, Ian D | |
| 700 | 1 | _aLakeman, Phillis | |
| 700 | 1 | _aLandlust, Annemiek | |
| 700 | 1 | _aLessel, Davor | |
| 700 | 1 | _aMichot, Caroline | |
| 700 | 1 | _aMoss, Jo | |
| 700 | 1 | _aNoon, Sarah E | |
| 700 | 1 | _aOliver, Chris | |
| 700 | 1 | _aParenti, Ilaria | |
| 700 | 1 | _aPie, Juan | |
| 700 | 1 | _aRamos, Feliciano J | |
| 700 | 1 | _aRieubland, Claudine | |
| 700 | 1 | _aRusso, Silvia | |
| 700 | 1 | _aSelicorni, Angelo | |
| 700 | 1 | _aTümer, Zeynep | |
| 700 | 1 | _aVorstenbosch, Rieneke | |
| 700 | 1 | _aWenger, Tara L | |
| 700 | 1 | _avan Balkom, Ingrid | |
| 700 | 1 | _aPiening, Sigrid | |
| 700 | 1 | _aWierzba, Jolanta | |
| 700 | 1 | _aHennekam, Raoul C | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 173 _gno. 8 _gp. 2108-2125 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.38279 _zAvailable from publisher's website |
| 999 |
_c27214184 _d27214184 |
||