| 000 | 01592 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250513035750.0 | ||
| 264 | 0 | _c19951011 | |
| 008 | 199510s 0 0 eng d | ||
| 022 | _a0148-7299 | ||
| 024 | 7 |
_a10.1002/ajmg.1320570247 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aTaschner, P E | |
| 245 | 0 | 0 |
_aApplication of chromosome 16 markers in the differential diagnosis of neuronal ceroid-lipofuscinosis. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics _cJun 1995 |
||
| 300 |
_a338-43 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S. | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAge of Onset |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aChromosomes, Human, Pair 16 |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 | _aDiagnosis, Differential |
| 650 | 0 | 4 |
_aEccrine Glands _xpathology |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Markers |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aLysosomes _xpathology |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMicroscopy, Electron |
| 650 | 0 | 4 |
_aNeuronal Ceroid-Lipofuscinoses _xdiagnosis |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aPolymerase Chain Reaction _xmethods |
| 650 | 0 | 4 |
_aTurkey _xethnology |
| 700 | 1 | _ade Vos, N | |
| 700 | 1 | _aCatsman-Berrevoets, C E | |
| 700 | 1 | _avan Duinen, S G | |
| 700 | 1 | _aLindhout, D | |
| 700 | 1 | _aBreuning, M H | |
| 773 | 0 |
_tAmerican journal of medical genetics _gvol. 57 _gno. 2 _gp. 338-43 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.1320570247 _zAvailable from publisher's website |
| 999 |
_c7667789 _d7667789 |
||