| 000 | 02744 a2200853 4500 | ||
|---|---|---|---|
| 005 | 20250514165427.0 | ||
| 264 | 0 | _c20040308 | |
| 008 | 200403s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.10310 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKato, Mitsuhiro | |
| 245 | 0 | 0 |
_aMutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. _h[electronic resource] |
| 260 |
_bHuman mutation _cFeb 2004 |
||
| 300 |
_a147-159 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 | _aAgenesis of Corpus Callosum |
| 650 | 0 | 4 | _aCells, Cultured |
| 650 | 0 | 4 |
_aCorpus Callosum _xpathology |
| 650 | 0 | 4 |
_aDNA Mutational Analysis _xmethods |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGene Expression Regulation _xgenetics |
| 650 | 0 | 4 |
_aGenetic Linkage _xgenetics |
| 650 | 0 | 4 |
_aGenitalia, Female _xabnormalities |
| 650 | 0 | 4 |
_aGenitalia, Male _xabnormalities |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 |
_aHomeodomain Proteins _xbiosynthesis |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 |
_aLymphocytes _xchemistry |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aSex Chromosome Disorders _xgenetics |
| 650 | 0 | 4 |
_aTranscription Factors _xbiosynthesis |
| 700 | 1 | _aDas, Soma | |
| 700 | 1 | _aPetras, Kristin | |
| 700 | 1 | _aKitamura, Kunio | |
| 700 | 1 | _aMorohashi, Ken-Ichirou | |
| 700 | 1 | _aAbuelo, Diane N | |
| 700 | 1 | _aBarr, Mason | |
| 700 | 1 | _aBonneau, Dominique | |
| 700 | 1 | _aBrady, Angela F | |
| 700 | 1 | _aCarpenter, Nancy J | |
| 700 | 1 | _aCipero, Karen L | |
| 700 | 1 | _aFrisone, Francesco | |
| 700 | 1 | _aFukuda, Takayuki | |
| 700 | 1 | _aGuerrini, Renzo | |
| 700 | 1 | _aIida, Eri | |
| 700 | 1 | _aItoh, Masayuki | |
| 700 | 1 | _aLewanda, Amy Feldman | |
| 700 | 1 | _aNanba, Yukiko | |
| 700 | 1 | _aOka, Akira | |
| 700 | 1 | _aProud, Virginia K | |
| 700 | 1 | _aSaugier-Veber, Pascale | |
| 700 | 1 | _aSchelley, Susan L | |
| 700 | 1 | _aSelicorni, Angelo | |
| 700 | 1 | _aShaner, Rachel | |
| 700 | 1 | _aSilengo, Margherita | |
| 700 | 1 | _aStewart, Fiona | |
| 700 | 1 | _aSugiyama, Noriyuki | |
| 700 | 1 | _aToyama, Jun | |
| 700 | 1 | _aToutain, Annick | |
| 700 | 1 | _aVargas, Ana Lía | |
| 700 | 1 | _aYanazawa, Masako | |
| 700 | 1 | _aZackai, Elaine H | |
| 700 | 1 | _aDobyns, William B | |
| 773 | 0 |
_tHuman mutation _gvol. 23 _gno. 2 _gp. 147-159 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.10310 _zAvailable from publisher's website |
| 999 |
_c14449689 _d14449689 |
||