| 000 | 01642 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250514031739.0 | ||
| 264 | 0 | _c20020808 | |
| 008 | 200208s 0 0 eng d | ||
| 022 | _a0148-7299 | ||
| 024 | 7 |
_a10.1002/ajmg.10349 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aDollfus, Hélène | |
| 245 | 0 | 0 |
_aSaethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics _cMay 2002 |
||
| 300 |
_a218-25 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAcrocephalosyndactylia _xgenetics |
| 650 | 0 | 4 | _aAmino Acid Substitution |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 | _aFamily Health |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Variation |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMice |
| 650 | 0 | 4 | _aMice, Inbred Strains |
| 650 | 0 | 4 | _aMice, Mutant Strains |
| 650 | 0 | 4 | _aMice, Transgenic |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNuclear Proteins _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 650 | 0 | 4 | _aTwist-Related Protein 1 |
| 700 | 1 | _aBiswas, Partha | |
| 700 | 1 | _aKumaramanickavel, Govindsamy | |
| 700 | 1 | _aStoetzel, Corinne | |
| 700 | 1 | _aQuillet, Renaud | |
| 700 | 1 | _aBiswas, Jyotirmay | |
| 700 | 1 | _aLajeunie, Elisabeth | |
| 700 | 1 | _aRenier, Dominique | |
| 700 | 1 | _aPerrin-Schmitt, Fabienne | |
| 773 | 0 |
_tAmerican journal of medical genetics _gvol. 109 _gno. 3 _gp. 218-25 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.10349 _zAvailable from publisher's website |
| 999 |
_c11877879 _d11877879 |
||