| 000 | 01843 a2200529 4500 | ||
|---|---|---|---|
| 005 | 20250517043855.0 | ||
| 264 | 0 | _c20160629 | |
| 008 | 201606s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.22843 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLoucks, Catrina M | |
| 245 | 0 | 0 |
_aMatching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. _h[electronic resource] |
| 260 |
_bHuman mutation _cOct 2015 |
||
| 300 |
_a1015-9 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aBone and Bones _xabnormalities |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aCohort Studies |
| 650 | 0 | 4 |
_aCraniosynostoses _xgenetics |
| 650 | 0 | 4 |
_aDwarfism _xgenetics |
| 650 | 0 | 4 |
_aEctodermal Dysplasia _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInformation Dissemination |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMinor Histocompatibility Antigens |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aTumor Suppressor Proteins _xgenetics |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aParboosingh, Jillian S | |
| 700 | 1 | _aShaheen, Ranad | |
| 700 | 1 | _aBernier, Francois P | |
| 700 | 1 | _aMcLeod, D Ross | |
| 700 | 1 | _aSeidahmed, Mohammed Z | |
| 700 | 1 | _aPuffenberger, Erik G | |
| 700 | 1 | _aOber, Carole | |
| 700 | 1 | _aHegele, Robert A | |
| 700 | 1 | _aBoycott, Kym M | |
| 700 | 1 | _aAlkuraya, Fowzan S | |
| 700 | 1 | _aInnes, A Micheil | |
| 773 | 0 |
_tHuman mutation _gvol. 36 _gno. 10 _gp. 1015-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.22843 _zAvailable from publisher's website |
| 999 |
_c25118647 _d25118647 |
||