| 000 | 01833 a2200541 4500 | ||
|---|---|---|---|
| 005 | 20250516105546.0 | ||
| 264 | 0 | _c20130322 | |
| 008 | 201303s 0 0 eng d | ||
| 022 | _a2190-3883 | ||
| 024 | 7 |
_a10.1007/s13353-012-0109-x _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aJamsheer, Aleksander | |
| 245 | 0 | 0 |
_aExpanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations. _h[electronic resource] |
| 260 |
_bJournal of applied genetics _cNov 2012 |
||
| 300 |
_a415-22 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAcrocephalosyndactylia _xdiagnosis |
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aDNA Copy Number Variations |
| 650 | 0 | 4 |
_aGenetic Association Studies _xmethods |
| 650 | 0 | 4 |
_aGenetic Testing _xmethods |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aKruppel-Like Transcription Factors _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aNerve Tissue Proteins _xgenetics |
| 650 | 0 | 4 |
_aPallister-Hall Syndrome _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 |
_aPolydactyly _xdiagnosis |
| 650 | 0 | 4 |
_aReal-Time Polymerase Chain Reaction _xmethods |
| 650 | 0 | 4 |
_aThumb _xabnormalities |
| 650 | 0 | 4 | _aYoung Adult |
| 650 | 0 | 4 | _aZinc Finger Protein Gli3 |
| 700 | 1 | _aSowińska, Anna | |
| 700 | 1 | _aTrzeciak, Tomasz | |
| 700 | 1 | _aJamsheer-Bratkowska, Małgorzata | |
| 700 | 1 | _aGeppert, Anita | |
| 700 | 1 | _aLatos-Bieleńska, Anna | |
| 773 | 0 |
_tJournal of applied genetics _gvol. 53 _gno. 4 _gp. 415-22 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s13353-012-0109-x _zAvailable from publisher's website |
| 999 |
_c22034991 _d22034991 |
||