| 000 | 02410 a2200733 4500 | ||
|---|---|---|---|
| 005 | 20250518033448.0 | ||
| 264 | 0 | _c20200317 | |
| 008 | 202003s 0 0 eng d | ||
| 022 | _a1530-0366 | ||
| 024 | 7 |
_a10.1038/s41436-019-0512-3 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBayat, Allan | |
| 245 | 0 | 0 |
_aPIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics. _h[electronic resource] |
| 260 |
_bGenetics in medicine : official journal of the American College of Medical Genetics _c10 2019 |
||
| 300 |
_a2216-2223 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 |
_aAcyltransferases _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aDevelopmental Disabilities _xgenetics |
| 650 | 0 | 4 |
_aEpilepsy _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 |
_aGlycosylphosphatidylinositols _xdeficiency |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aSeizures _xgenetics |
| 700 | 1 | _aKnaus, Alexej | |
| 700 | 1 | _aJuul, Annika Wollenberg | |
| 700 | 1 | _aDukic, Dejan | |
| 700 | 1 | _aGardella, Elena | |
| 700 | 1 | _aCharzewska, Agnieszka | |
| 700 | 1 | _aClement, Emma | |
| 700 | 1 | _aHjalgrim, Helle | |
| 700 | 1 | _aHoffman-Zacharska, Dorota | |
| 700 | 1 | _aHorn, Denise | |
| 700 | 1 | _aHorton, Rachel | |
| 700 | 1 | _aHurst, Jane A | |
| 700 | 1 | _aJosifova, Dragana | |
| 700 | 1 | _aLarsen, Line H G | |
| 700 | 1 | _aLascelles, Karine | |
| 700 | 1 | _aObersztyn, Ewa | |
| 700 | 1 | _aPagnamenta, Alistair | |
| 700 | 1 | _aPal, Deb K | |
| 700 | 1 | _aPendziwiat, Manuela | |
| 700 | 1 | _aRyten, Mina | |
| 700 | 1 | _aTaylor, Jenny | |
| 700 | 1 | _aVogt, Julie | |
| 700 | 1 | _aWeber, Yvonne | |
| 700 | 1 | _aKrawitz, Peter M | |
| 700 | 1 | _aHelbig, Ingo | |
| 700 | 1 | _aKini, Usha | |
| 700 | 1 | _aMøller, Rikke S | |
| 773 | 0 |
_tGenetics in medicine : official journal of the American College of Medical Genetics _gvol. 21 _gno. 10 _gp. 2216-2223 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/s41436-019-0512-3 _zAvailable from publisher's website |
| 999 |
_c29579849 _d29579849 |
||