| 000 | 03364 a2201105 4500 | ||
|---|---|---|---|
| 005 | 20250517222724.0 | ||
| 264 | 0 | _c20190726 | |
| 008 | 201907s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.23563 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPriolo, Manuela | |
| 245 | 0 | 0 |
_aFurther delineation of Malan syndrome. _h[electronic resource] |
| 260 |
_bHuman mutation _c09 2018 |
||
| 300 |
_a1226-1237 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aBone Diseases, Developmental _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aChromosome Deletion |
| 650 | 0 | 4 |
_aCongenital Hypothyroidism _xgenetics |
| 650 | 0 | 4 |
_aCraniofacial Abnormalities _xgenetics |
| 650 | 0 | 4 |
_aDevelopmental Disabilities _xgenetics |
| 650 | 0 | 4 |
_aExons _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aHand Deformities, Congenital _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMegalencephaly _xgenetics |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 |
_aNFI Transcription Factors _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aSepto-Optic Dysplasia _xgenetics |
| 650 | 0 | 4 |
_aSotos Syndrome _xgenetics |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aSchanze, Denny | |
| 700 | 1 | _aTatton-Brown, Katrin | |
| 700 | 1 | _aMulder, Paul A | |
| 700 | 1 | _aTenorio, Jair | |
| 700 | 1 | _aKooblall, Kreepa | |
| 700 | 1 | _aAcero, Inés Hernández | |
| 700 | 1 | _aAlkuraya, Fowzan S | |
| 700 | 1 | _aArias, Pedro | |
| 700 | 1 | _aBernardini, Laura | |
| 700 | 1 | _aBijlsma, Emilia K | |
| 700 | 1 | _aCole, Trevor | |
| 700 | 1 | _aCoubes, Christine | |
| 700 | 1 | _aDapia, Irene | |
| 700 | 1 | _aDavies, Sally | |
| 700 | 1 | _aDi Donato, Nataliya | |
| 700 | 1 | _aElcioglu, Nursel H | |
| 700 | 1 | _aFahrner, Jill A | |
| 700 | 1 | _aFoster, Alison | |
| 700 | 1 | _aGonzález, Noelia García | |
| 700 | 1 | _aHuber, Ilka | |
| 700 | 1 | _aIascone, Maria | |
| 700 | 1 | _aKaiser, Ann-Sophie | |
| 700 | 1 | _aKamath, Arveen | |
| 700 | 1 | _aLiebelt, Jan | |
| 700 | 1 | _aLynch, Sally Ann | |
| 700 | 1 | _aMaas, Saskia M | |
| 700 | 1 | _aMammì, Corrado | |
| 700 | 1 | _aMathijssen, Inge B | |
| 700 | 1 | _aMcKee, Shane | |
| 700 | 1 | _aMenke, Leonie A | |
| 700 | 1 | _aMirzaa, Ghayda M | |
| 700 | 1 | _aMontgomery, Tara | |
| 700 | 1 | _aNeubauer, Dorothee | |
| 700 | 1 | _aNeumann, Thomas E | |
| 700 | 1 | _aPintomalli, Letizia | |
| 700 | 1 | _aPisanti, Maria Antonietta | |
| 700 | 1 | _aPlomp, Astrid S | |
| 700 | 1 | _aPrice, Sue | |
| 700 | 1 | _aSalter, Claire | |
| 700 | 1 | _aSantos-Simarro, Fernando | |
| 700 | 1 | _aSarda, Pierre | |
| 700 | 1 | _aSegovia, Mabel | |
| 700 | 1 | _aShaw-Smith, Charles | |
| 700 | 1 | _aSmithson, Sarah | |
| 700 | 1 | _aSuri, Mohnish | |
| 700 | 1 | _aValdez, Rita Maria | |
| 700 | 1 | _aVan Haeringen, Arie | |
| 700 | 1 | _aVan Hagen, Johanna M | |
| 700 | 1 | _aZollino, Marcela | |
| 700 | 1 | _aLapunzina, Pablo | |
| 700 | 1 | _aThakker, Rajesh V | |
| 700 | 1 | _aZenker, Martin | |
| 700 | 1 | _aHennekam, Raoul C | |
| 773 | 0 |
_tHuman mutation _gvol. 39 _gno. 9 _gp. 1226-1237 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.23563 _zAvailable from publisher's website |
| 999 |
_c28524975 _d28524975 |
||