| 000 | 01899 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250517181232.0 | ||
| 264 | 0 | _c20180216 | |
| 008 | 201802s 0 0 eng d | ||
| 022 | _a1552-485X | ||
| 024 | 7 |
_a10.1002/ajmg.b.32602 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aAbbasi, Ansar A | |
| 245 | 0 | 0 |
_aIdentification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics _cDec 2017 |
||
| 300 |
_a839-845 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aCarrier Proteins _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xcomplications |
| 650 | 0 | 4 | _aIntercellular Signaling Peptides and Proteins |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMicrocephaly _xcomplications |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPrognosis |
| 650 | 0 | 4 |
_aSpeech Disorders _xcomplications |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aBlaesius, Kathrin | |
| 700 | 1 | _aHu, Hao | |
| 700 | 1 | _aLatif, Zahid | |
| 700 | 1 | _aPicker-Minh, Sylvie | |
| 700 | 1 | _aKhan, Muhammad N | |
| 700 | 1 | _aFarooq, Sundas | |
| 700 | 1 | _aKhan, Muzammil A | |
| 700 | 1 | _aKaindl, Angela M | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics _gvol. 174 _gno. 8 _gp. 839-845 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.b.32602 _zAvailable from publisher's website |
| 999 |
_c27683769 _d27683769 |
||