| 000 | 02620 a2200805 4500 | ||
|---|---|---|---|
| 005 | 20250517054455.0 | ||
| 264 | 0 | _c20160912 | |
| 008 | 201609s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmedgenet-2015-103184 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aZollino, Marcella | |
| 245 | 0 | 0 |
_aIntragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cDec 2015 |
||
| 300 |
_a804-14 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aChromosome Deletion |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 17 _xgenetics |
| 650 | 0 | 4 |
_aCraniofacial Abnormalities _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFetal Growth Retardation _xgenetics |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aHaploinsufficiency |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aLanguage Development Disorders _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aNuclear Proteins _xgenetics |
| 650 | 0 | 4 |
_aSeizures _xgenetics |
| 650 | 0 | 4 | _aSeverity of Illness Index |
| 650 | 0 | 4 |
_aSmith-Magenis Syndrome _xgenetics |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aMarangi, Giuseppe | |
| 700 | 1 | _aPonzi, Emanuela | |
| 700 | 1 | _aOrteschi, Daniela | |
| 700 | 1 | _aRicciardi, Stefania | |
| 700 | 1 | _aLattante, Serena | |
| 700 | 1 | _aMurdolo, Marina | |
| 700 | 1 | _aBattaglia, Domenica | |
| 700 | 1 | _aContaldo, Ilaria | |
| 700 | 1 | _aMercuri, Eugenio | |
| 700 | 1 | _aStefanini, Maria Chiara | |
| 700 | 1 | _aCaumes, Roseline | |
| 700 | 1 | _aEdery, Patrick | |
| 700 | 1 | _aRossi, Massimiliano | |
| 700 | 1 | _aPiccione, Maria | |
| 700 | 1 | _aCorsello, Giovanni | |
| 700 | 1 | _aDella Monica, Matteo | |
| 700 | 1 | _aScarano, Francesca | |
| 700 | 1 | _aPriolo, Manuela | |
| 700 | 1 | _aGentile, Mattia | |
| 700 | 1 | _aZampino, Giuseppe | |
| 700 | 1 | _aVijzelaar, Raymon | |
| 700 | 1 | _aAbdulrahman, Omar | |
| 700 | 1 | _aRauch, Anita | |
| 700 | 1 | _aOneda, Beatrice | |
| 700 | 1 | _aDeardorff, Matthew A | |
| 700 | 1 | _aSaitta, Sulagna C | |
| 700 | 1 | _aFalk, Marni J | |
| 700 | 1 | _aDubbs, Holly | |
| 700 | 1 | _aZackai, Elaine | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 52 _gno. 12 _gp. 804-14 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmedgenet-2015-103184 _zAvailable from publisher's website |
| 999 |
_c25312891 _d25312891 |
||