| 000 | 02929 a2200841 4500 | ||
|---|---|---|---|
| 005 | 20250516095304.0 | ||
| 264 | 0 | _c20130117 | |
| 008 | 201301s 0 0 eng d | ||
| 022 | _a1460-2083 | ||
| 024 | 7 |
_a10.1093/hmg/dds218 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aRainger, Joe | |
| 245 | 0 | 0 |
_aMiller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. _h[electronic resource] |
| 260 |
_bHuman molecular genetics _cSep 2012 |
||
| 300 |
_a3969-83 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xenzymology |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aCarbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing) _xgenetics |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aDihydroorotate Dehydrogenase |
| 650 | 0 | 4 |
_aEmbryo, Mammalian _xmetabolism |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGas Chromatography-Mass Spectrometry _xstandards |
| 650 | 0 | 4 | _aGene Expression Regulation, Developmental |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aGenetic Complementation Test |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aLimb Buds _xmetabolism |
| 650 | 0 | 4 |
_aLimb Deformities, Congenital _xenzymology |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMandibulofacial Dysostosis _xenzymology |
| 650 | 0 | 4 | _aMice |
| 650 | 0 | 4 |
_aMicrognathism _xenzymology |
| 650 | 0 | 4 |
_aMultienzyme Complexes _xgenetics |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aOrotate Phosphoribosyltransferase _xgenetics |
| 650 | 0 | 4 |
_aOrotic Acid _xanalogs & derivatives |
| 650 | 0 | 4 |
_aOrotidine-5'-Phosphate Decarboxylase _xgenetics |
| 650 | 0 | 4 |
_aOxidoreductases Acting on CH-CH Group Donors _xdeficiency |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aReference Standards |
| 650 | 0 | 4 |
_aSchizosaccharomyces _xgenetics |
| 650 | 0 | 4 |
_aSchizosaccharomyces pombe Proteins _xgenetics |
| 700 | 1 | _aBengani, Hemant | |
| 700 | 1 | _aCampbell, Leigh | |
| 700 | 1 | _aAnderson, Eve | |
| 700 | 1 | _aSokhi, Kishan | |
| 700 | 1 | _aLam, Wayne | |
| 700 | 1 | _aRiess, Angelika | |
| 700 | 1 | _aAnsari, Morad | |
| 700 | 1 | _aSmithson, Sarah | |
| 700 | 1 | _aLees, Melissa | |
| 700 | 1 | _aMercer, Catherine | |
| 700 | 1 | _aMcKenzie, Kathryn | |
| 700 | 1 | _aLengfeld, Tobias | |
| 700 | 1 | _aGener Querol, Blanca | |
| 700 | 1 | _aBranney, Peter | |
| 700 | 1 | _aMcKay, Stewart | |
| 700 | 1 | _aMorrison, Harris | |
| 700 | 1 | _aMedina, Bethan | |
| 700 | 1 | _aRobertson, Morag | |
| 700 | 1 | _aKohlhase, Jürgen | |
| 700 | 1 | _aGordon, Colin | |
| 700 | 1 | _aKirk, Jean | |
| 700 | 1 | _aWieczorek, Dagmar | |
| 700 | 1 | _aFitzpatrick, David R | |
| 773 | 0 |
_tHuman molecular genetics _gvol. 21 _gno. 18 _gp. 3969-83 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1093/hmg/dds218 _zAvailable from publisher's website |
| 999 |
_c21859861 _d21859861 |
||