| 000 | 02535 a2200781 4500 | ||
|---|---|---|---|
| 005 | 20250518000737.0 | ||
| 264 | 0 | _c20190715 | |
| 008 | 201907s 0 0 eng d | ||
| 022 | _a1530-0366 | ||
| 024 | 7 |
_a10.1038/s41436-018-0137-y _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aDines, Jennifer N | |
| 245 | 0 | 0 |
_aTANGO2: expanding the clinical phenotype and spectrum of pathogenic variants. _h[electronic resource] |
| 260 |
_bGenetics in medicine : official journal of the American College of Medical Genetics _c03 2019 |
||
| 300 |
_a601-607 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S. | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aAryl Hydrocarbon Receptor Nuclear Translocator _xgenetics |
| 650 | 0 | 4 |
_aBrain Diseases _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aDNA Copy Number Variations _xgenetics |
| 650 | 0 | 4 |
_aDevelopmental Disabilities _xgenetics |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aFamily |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aSeizures _xgenetics |
| 650 | 0 | 4 |
_aExome Sequencing _xmethods |
| 700 | 1 | _aGolden-Grant, Katie | |
| 700 | 1 | _aLaCroix, Amy | |
| 700 | 1 | _aMuir, Alison M | |
| 700 | 1 | _aCintrón, Dianne Laboy | |
| 700 | 1 | _aMcWalter, Kirsty | |
| 700 | 1 | _aCho, Megan T | |
| 700 | 1 | _aSun, Angela | |
| 700 | 1 | _aMerritt, J Lawrence | |
| 700 | 1 | _aThies, Jenny | |
| 700 | 1 | _aNiyazov, Dmitriy | |
| 700 | 1 | _aBurton, Barbara | |
| 700 | 1 | _aKim, Katherine | |
| 700 | 1 | _aFleming, Leah | |
| 700 | 1 | _aWestman, Rachel | |
| 700 | 1 | _aKarachunski, Peter | |
| 700 | 1 | _aDalton, Joline | |
| 700 | 1 | _aBasinger, Alice | |
| 700 | 1 | _aFicicioglu, Can | |
| 700 | 1 | _aHelbig, Ingo | |
| 700 | 1 | _aPendziwiat, Manuela | |
| 700 | 1 | _aMuhle, Hiltrud | |
| 700 | 1 | _aHelbig, Katherine L | |
| 700 | 1 | _aCaliebe, Almuth | |
| 700 | 1 | _aSanter, René | |
| 700 | 1 | _aBecker, Kolja | |
| 700 | 1 | _aSuchy, Sharon | |
| 700 | 1 | _aDouglas, Ganka | |
| 700 | 1 | _aMillan, Francisca | |
| 700 | 1 | _aBegtrup, Amber | |
| 700 | 1 | _aMonaghan, Kristin G | |
| 700 | 1 | _aMefford, Heather C | |
| 773 | 0 |
_tGenetics in medicine : official journal of the American College of Medical Genetics _gvol. 21 _gno. 3 _gp. 601-607 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/s41436-018-0137-y _zAvailable from publisher's website |
| 999 |
_c28865144 _d28865144 |
||