| 000 | 01699 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250514162129.0 | ||
| 264 | 0 | _c20040224 | |
| 008 | 200402s 0 0 eng d | ||
| 022 | _a1098-3600 | ||
| 024 | 7 |
_a10.1097/01.gim.0000095625.14160.ab _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPotocki, Lorraine | |
| 245 | 0 | 0 |
_aVariability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. _h[electronic resource] |
| 260 |
_bGenetics in medicine : official journal of the American College of Medical Genetics _c |
||
| 300 |
_a430-4 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. | ||
| 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 | _aCytogenetic Analysis |
| 650 | 0 | 4 | _aElectrophoresis, Gel, Pulsed-Field |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIn Situ Hybridization, Fluorescence |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aProteins _xgenetics |
| 650 | 0 | 4 |
_aSleep Disorders, Intrinsic _xgenetics |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 | _aTrans-Activators |
| 650 | 0 | 4 | _aTranscription Factors |
| 700 | 1 | _aShaw, Christine J | |
| 700 | 1 | _aStankiewicz, Pawel | |
| 700 | 1 | _aLupski, James R | |
| 773 | 0 |
_tGenetics in medicine : official journal of the American College of Medical Genetics _gvol. 5 _gno. 6 _gp. 430-4 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1097/01.gim.0000095625.14160.ab _zAvailable from publisher's website |
| 999 |
_c14351580 _d14351580 |
||