000 | 01600 a2200469 4500 | ||
---|---|---|---|
005 | 20250515233959.0 | ||
264 | 0 | _c20101215 | |
008 | 201012s 0 0 eng d | ||
022 | _a1552-4833 | ||
024 | 7 |
_a10.1002/ajmg.a.33569 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aWaite, Alexander | |
245 | 0 | 0 |
_aCerebellar hypoplasia and Cohen syndrome: a confirmed association. _h[electronic resource] |
260 |
_bAmerican journal of medical genetics. Part A _cSep 2010 |
||
300 |
_a2390-3 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 |
_aBrain _xpathology |
650 | 0 | 4 | _aCerebellar Diseases |
650 | 0 | 4 |
_aCerebellum _xabnormalities |
650 | 0 | 4 | _aChild |
650 | 0 | 4 | _aDNA Mutational Analysis |
650 | 0 | 4 |
_aDevelopmental Disabilities _xdiagnosis |
650 | 0 | 4 |
_aFingers _xabnormalities |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aInfant |
650 | 0 | 4 | _aInfant, Newborn |
650 | 0 | 4 |
_aIntellectual Disability _xdiagnosis |
650 | 0 | 4 | _aMagnetic Resonance Imaging |
650 | 0 | 4 | _aMale |
650 | 0 | 4 |
_aMicrocephaly _xdiagnosis |
650 | 0 | 4 |
_aMuscle Hypotonia _xdiagnosis |
650 | 0 | 4 |
_aMyopia _xdiagnosis |
650 | 0 | 4 |
_aObesity _xdiagnosis |
650 | 0 | 4 | _aRetinal Degeneration |
700 | 1 | _aSomer, Mirja | |
700 | 1 | _aO'Driscoll, Mary | |
700 | 1 | _aMillen, Kathleen | |
700 | 1 | _aManson, Forbes D C | |
700 | 1 | _aChandler, Kate E | |
773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 152A _gno. 9 _gp. 2390-3 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.33569 _zAvailable from publisher's website |
999 |
_c20022845 _d20022845 |