000 | 01508 a2200433 4500 | ||
---|---|---|---|
005 | 20250512014727.0 | ||
264 | 0 | _c19890630 | |
008 | 198906s 0 0 eng d | ||
022 | _a0148-7299 | ||
024 | 7 |
_a10.1002/ajmg.1320320312 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aWilliams, C A | |
245 | 0 | 0 |
_aAngelman syndrome in a daughter with del(15) (q11q13) associated with brachycephaly, hearing loss, enlarged foramen magnum, and ataxia in the mother. _h[electronic resource] |
260 |
_bAmerican journal of medical genetics _cMar 1989 |
||
300 |
_a333-8 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aAdult |
650 | 0 | 4 |
_aAtaxia _xgenetics |
650 | 0 | 4 | _aBlotting, Southern |
650 | 0 | 4 | _aChild, Preschool |
650 | 0 | 4 | _aChromosome Banding |
650 | 0 | 4 | _aChromosome Deletion |
650 | 0 | 4 | _aChromosomes, Human, Pair 15 |
650 | 0 | 4 |
_aDNA _xgenetics |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 |
_aForamen Magnum _xpathology |
650 | 0 | 4 |
_aHead _xabnormalities |
650 | 0 | 4 |
_aHearing Loss, Sensorineural _xgenetics |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aKaryotyping |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 |
_aSpeech Disorders _xgenetics |
650 | 0 | 4 | _aSyndrome |
700 | 1 | _aHendrickson, J E | |
700 | 1 | _aCantĂș, E S | |
700 | 1 | _aDonlon, T A | |
773 | 0 |
_tAmerican journal of medical genetics _gvol. 32 _gno. 3 _gp. 333-8 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.1320320312 _zAvailable from publisher's website |
999 |
_c2735233 _d2735233 |