| 000 | 02498 a2200745 4500 | ||
|---|---|---|---|
| 005 | 20250517171423.0 | ||
| 264 | 0 | _c20181211 | |
| 008 | 201812s 0 0 eng d | ||
| 022 | _a1530-0366 | ||
| 024 | 7 |
_a10.1038/gim.2017.113 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aAnsar, Muhammad | |
| 245 | 0 | 0 |
_aBiallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay. _h[electronic resource] |
| 260 |
_bGenetics in medicine : official journal of the American College of Medical Genetics _c07 2018 |
||
| 300 |
_a778-784 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 |
_aChromosome Mapping _xmethods |
| 650 | 0 | 4 | _aFamily |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGene Frequency _xgenetics |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 |
_aLanguage Development Disorders _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMembrane Proteins _xgenetics |
| 650 | 0 | 4 |
_aMicrocephaly _xgenetics |
| 650 | 0 | 4 |
_aMotor Activity _xgenetics |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 |
_aNerve Tissue Proteins _xgenetics |
| 650 | 0 | 4 | _aPakistan |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSequence Analysis, Protein |
| 650 | 0 | 4 | _aExome Sequencing |
| 700 | 1 | _aRiazuddin, Saima | |
| 700 | 1 | _aSarwar, Muhammad Tahir | |
| 700 | 1 | _aMakrythanasis, Periklis | |
| 700 | 1 | _aParacha, Sohail Aziz | |
| 700 | 1 | _aIqbal, Zafar | |
| 700 | 1 | _aKhan, Jamshed | |
| 700 | 1 | _aAssir, Muhammad Zaman | |
| 700 | 1 | _aHussain, Mureed | |
| 700 | 1 | _aRazzaq, Attia | |
| 700 | 1 | _aPolla, Daniel Lôpo | |
| 700 | 1 | _aTaj, Abid Sohail | |
| 700 | 1 | _aHolmgren, Asbjørn | |
| 700 | 1 | _aBatool, Naila | |
| 700 | 1 | _aMisceo, Doriana | |
| 700 | 1 | _aIwaszkiewicz, Justyna | |
| 700 | 1 | _ade Brouwer, Arjan P M | |
| 700 | 1 | _aGuipponi, Michel | |
| 700 | 1 | _aHanquinet, Sylviane | |
| 700 | 1 | _aZoete, Vincent | |
| 700 | 1 | _aSantoni, Federico A | |
| 700 | 1 | _aFrengen, Eirik | |
| 700 | 1 | _aAhmed, Jawad | |
| 700 | 1 | _aRiazuddin, Sheikh | |
| 700 | 1 | _avan Bokhoven, Hans | |
| 700 | 1 | _aAntonarakis, Stylianos E | |
| 773 | 0 |
_tGenetics in medicine : official journal of the American College of Medical Genetics _gvol. 20 _gno. 7 _gp. 778-784 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/gim.2017.113 _zAvailable from publisher's website |
| 999 |
_c27494074 _d27494074 |
||