| 000 | 03235 a2201057 4500 | ||
|---|---|---|---|
| 005 | 20250517061201.0 | ||
| 264 | 0 | _c20161018 | |
| 008 | 201610s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.22924 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHuang, Lijia | |
| 245 | 0 | 0 |
_aMandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. _h[electronic resource] |
| 260 |
_bHuman mutation _cFeb 2016 |
||
| 300 |
_a148-54 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Review | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xdiagnosis |
| 650 | 0 | 4 | _aAmino Acid Motifs |
| 650 | 0 | 4 | _aDatabases, Genetic |
| 650 | 0 | 4 | _aGene Expression |
| 650 | 0 | 4 | _aHaploinsufficiency |
| 650 | 0 | 4 |
_aHearing Loss _xdiagnosis |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xdiagnosis |
| 650 | 0 | 4 |
_aMandibulofacial Dysostosis _xdiagnosis |
| 650 | 0 | 4 |
_aMicrocephaly _xdiagnosis |
| 650 | 0 | 4 | _aModels, Molecular |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPenetrance |
| 650 | 0 | 4 |
_aPeptide Elongation Factors _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aProtein Structure, Secondary |
| 650 | 0 | 4 | _aProtein Structure, Tertiary |
| 650 | 0 | 4 | _aRNA Splicing |
| 650 | 0 | 4 |
_aRibonucleoprotein, U5 Small Nuclear _xgenetics |
| 650 | 0 | 4 |
_aSpliceosomes _xgenetics |
| 700 | 1 | _aVanstone, Megan R | |
| 700 | 1 | _aHartley, Taila | |
| 700 | 1 | _aOsmond, Matthew | |
| 700 | 1 | _aBarrowman, Nick | |
| 700 | 1 | _aAllanson, Judith | |
| 700 | 1 | _aBaker, Laura | |
| 700 | 1 | _aDabir, Tabib A | |
| 700 | 1 | _aDipple, Katrina M | |
| 700 | 1 | _aDobyns, William B | |
| 700 | 1 | _aEstrella, Jane | |
| 700 | 1 | _aFaghfoury, Hanna | |
| 700 | 1 | _aFavaro, Francine P | |
| 700 | 1 | _aGoel, Himanshu | |
| 700 | 1 | _aGregersen, Pernille A | |
| 700 | 1 | _aGripp, Karen W | |
| 700 | 1 | _aGrix, Art | |
| 700 | 1 | _aGuion-Almeida, Maria-Leine | |
| 700 | 1 | _aHarr, Margaret H | |
| 700 | 1 | _aHudson, Cindy | |
| 700 | 1 | _aHunter, Alasdair G W | |
| 700 | 1 | _aJohnson, John | |
| 700 | 1 | _aJoss, Shelagh K | |
| 700 | 1 | _aKimball, Amy | |
| 700 | 1 | _aKini, Usha | |
| 700 | 1 | _aKline, Antonie D | |
| 700 | 1 | _aLauzon, Julie | |
| 700 | 1 | _aLildballe, Dorte L | |
| 700 | 1 | _aLópez-González, Vanesa | |
| 700 | 1 | _aMartinezmoles, Johanna | |
| 700 | 1 | _aMeldrum, Cliff | |
| 700 | 1 | _aMirzaa, Ghayda M | |
| 700 | 1 | _aMorel, Chantal F | |
| 700 | 1 | _aMorton, Jenny E V | |
| 700 | 1 | _aPyle, Louise C | |
| 700 | 1 | _aQuintero-Rivera, Fabiola | |
| 700 | 1 | _aRicher, Julie | |
| 700 | 1 | _aScheuerle, Angela E | |
| 700 | 1 | _aSchönewolf-Greulich, Bitten | |
| 700 | 1 | _aShears, Deborah J | |
| 700 | 1 | _aSilver, Josh | |
| 700 | 1 | _aSmith, Amanda C | |
| 700 | 1 | _aTemple, I Karen | |
| 700 | 1 | _avan de Kamp, Jiddeke M | |
| 700 | 1 | _avan Dijk, Fleur S | |
| 700 | 1 | _aVandersteen, Anthony M | |
| 700 | 1 | _aWhite, Sue M | |
| 700 | 1 | _aZackai, Elaine H | |
| 700 | 1 | _aZou, Ruobing | |
| 700 | 1 | _aBulman, Dennis E | |
| 700 | 1 | _aBoycott, Kym M | |
| 700 | 1 | _aLines, Matthew A | |
| 773 | 0 |
_tHuman mutation _gvol. 37 _gno. 2 _gp. 148-54 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.22924 _zAvailable from publisher's website |
| 999 |
_c25393094 _d25393094 |
||