000 | 01677 a2200493 4500 | ||
---|---|---|---|
005 | 20250514031739.0 | ||
264 | 0 | _c20020808 | |
008 | 200208s 0 0 eng d | ||
022 | _a0148-7299 | ||
024 | 7 |
_a10.1002/ajmg.10348 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aMinn, David | |
245 | 0 | 0 |
_aFurther clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases. _h[electronic resource] |
260 |
_bAmerican journal of medical genetics _cMay 2002 |
||
300 |
_a211-7 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Review | ||
650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
650 | 0 | 4 | _aChild, Preschool |
650 | 0 | 4 |
_aCraniofacial Abnormalities _xpathology |
650 | 0 | 4 | _aElectroencephalography |
650 | 0 | 4 | _aElectroretinography |
650 | 0 | 4 |
_aEvoked Potentials, Auditory _xphysiology |
650 | 0 | 4 |
_aEye Diseases _xpathology |
650 | 0 | 4 |
_aHeart Defects, Congenital _xpathology |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aHydronephrosis _xpathology |
650 | 0 | 4 | _aInfant |
650 | 0 | 4 |
_aIntellectual Disability _xpathology |
650 | 0 | 4 | _aKaryotyping |
650 | 0 | 4 | _aMale |
650 | 0 | 4 |
_aStapes _xabnormalities |
650 | 0 | 4 | _aSyndrome |
700 | 1 | _aChristmann, Dominique | |
700 | 1 | _aDe Saint-Martin, Anne | |
700 | 1 | _aAlembik, Yves | |
700 | 1 | _aEliot, Mylène | |
700 | 1 | _aMack, Geneviève | |
700 | 1 | _aFischbach, Michel | |
700 | 1 | _aFlament, Jacques | |
700 | 1 | _aVeillon, Francis | |
700 | 1 | _aDollfus, Hélène | |
773 | 0 |
_tAmerican journal of medical genetics _gvol. 109 _gno. 3 _gp. 211-7 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.10348 _zAvailable from publisher's website |
999 |
_c11877878 _d11877878 |