| 000 | 02745 a2200865 4500 | ||
|---|---|---|---|
| 005 | 20250517080015.0 | ||
| 264 | 0 | _c20161213 | |
| 008 | 201612s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.37476 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSchuurs-Hoeijmakers, Janneke H M | |
| 245 | 0 | 0 |
_aClinical delineation of the PACS1-related syndrome--Report on 19 patients. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cMar 2016 |
||
| 300 |
_a670-5 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xdiagnosis |
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aAnticonvulsants _xtherapeutic use |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aFacies |
| 650 | 0 | 4 |
_aFailure to Thrive _xdiagnosis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Expression |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xdiagnosis |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMuscle Hypotonia _xdiagnosis |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 |
_aSeizures _xdiagnosis |
| 650 | 0 | 4 | _aSeverity of Illness Index |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 |
_aVesicular Transport Proteins _xgenetics |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aLandsverk, Megan L | |
| 700 | 1 | _aFoulds, Nicola | |
| 700 | 1 | _aKukolich, Mary K | |
| 700 | 1 | _aGavrilova, Ralitza H | |
| 700 | 1 | _aGreville-Heygate, Stephanie | |
| 700 | 1 | _aHanson-Kahn, Andrea | |
| 700 | 1 | _aBernstein, Jonathan A | |
| 700 | 1 | _aGlass, Jennifer | |
| 700 | 1 | _aChitayat, David | |
| 700 | 1 | _aBurrow, Thomas A | |
| 700 | 1 | _aHusami, Ammar | |
| 700 | 1 | _aCollins, Kathleen | |
| 700 | 1 | _aWusik, Katie | |
| 700 | 1 | _avan der Aa, Nathalie | |
| 700 | 1 | _aKooy, Frank | |
| 700 | 1 | _aBrown, Kate Tatton | |
| 700 | 1 | _aGadzicki, Dorothea | |
| 700 | 1 | _aKini, Usha | |
| 700 | 1 | _aAlvarez, Sara | |
| 700 | 1 | _aFernández-Jaén, Alberto | |
| 700 | 1 | _aMcGehee, Frank | |
| 700 | 1 | _aSelby, Katherine | |
| 700 | 1 | _aTarailo-Graovac, Maja | |
| 700 | 1 | _aVan Allen, Margot | |
| 700 | 1 | _avan Karnebeek, Clara D M | |
| 700 | 1 | _aStavropoulos, Dimitri J | |
| 700 | 1 | _aMarshall, Christian R | |
| 700 | 1 | _aMerico, Daniele | |
| 700 | 1 | _aGregor, Anne | |
| 700 | 1 | _aZweier, Christiane | |
| 700 | 1 | _aHopkin, Robert J | |
| 700 | 1 | _aChu, Yoyo Wing-Yiu | |
| 700 | 1 | _aChung, Brian Hon-Yin | |
| 700 | 1 | _ade Vries, Bert B A | |
| 700 | 1 | _aDevriendt, Koenraad | |
| 700 | 1 | _aHurles, Matthew E | |
| 700 | 1 | _aBrunner, Han G | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 170 _gno. 3 _gp. 670-5 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.37476 _zAvailable from publisher's website |
| 999 |
_c25699894 _d25699894 |
||