| 000 | 03657 a2201249 4500 | ||
|---|---|---|---|
| 005 | 20250517113101.0 | ||
| 264 | 0 | _c20170623 | |
| 008 | 201706s 0 0 eng d | ||
| 022 | _a1546-1718 | ||
| 024 | 7 |
_a10.1038/ng.3661 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aJenkinson, Emma M | |
| 245 | 0 | 0 |
_aMutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. _h[electronic resource] |
| 260 |
_bNature genetics _c10 2016 |
||
| 300 |
_a1185-92 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aCalcinosis _xgenetics |
| 650 | 0 | 4 | _aCell Line |
| 650 | 0 | 4 |
_aCerebral Small Vessel Diseases _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aChromosomes, Human, Pair 17 |
| 650 | 0 | 4 | _aCohort Studies |
| 650 | 0 | 4 |
_aCysts _xgenetics |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Linkage |
| 650 | 0 | 4 | _aGenome, Human |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aLeukoencephalopathies _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aRNA, Small Nucleolar _xgenetics |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aRodero, Mathieu P | |
| 700 | 1 | _aKasher, Paul R | |
| 700 | 1 | _aUggenti, Carolina | |
| 700 | 1 | _aOojageer, Anthony | |
| 700 | 1 | _aGoosey, Laurence C | |
| 700 | 1 | _aRose, Yoann | |
| 700 | 1 | _aKershaw, Christopher J | |
| 700 | 1 | _aUrquhart, Jill E | |
| 700 | 1 | _aWilliams, Simon G | |
| 700 | 1 | _aBhaskar, Sanjeev S | |
| 700 | 1 | _aO'Sullivan, James | |
| 700 | 1 | _aBaerlocher, Gabriela M | |
| 700 | 1 | _aHaubitz, Monika | |
| 700 | 1 | _aAubert, Geraldine | |
| 700 | 1 | _aBarañano, Kristin W | |
| 700 | 1 | _aBarnicoat, Angela J | |
| 700 | 1 | _aBattini, Roberta | |
| 700 | 1 | _aBerger, Andrea | |
| 700 | 1 | _aBlair, Edward M | |
| 700 | 1 | _aBrunstrom-Hernandez, Janice E | |
| 700 | 1 | _aBuckard, Johannes A | |
| 700 | 1 | _aCassiman, David M | |
| 700 | 1 | _aCaumes, Rosaline | |
| 700 | 1 | _aCordelli, Duccio M | |
| 700 | 1 | _aDe Waele, Liesbeth M | |
| 700 | 1 | _aFay, Alexander J | |
| 700 | 1 | _aFerreira, Patrick | |
| 700 | 1 | _aFletcher, Nicholas A | |
| 700 | 1 | _aFryer, Alan E | |
| 700 | 1 | _aGoel, Himanshu | |
| 700 | 1 | _aHemingway, Cheryl A | |
| 700 | 1 | _aHenneke, Marco | |
| 700 | 1 | _aHughes, Imelda | |
| 700 | 1 | _aJefferson, Rosalind J | |
| 700 | 1 | _aKumar, Ram | |
| 700 | 1 | _aLagae, Lieven | |
| 700 | 1 | _aLandrieu, Pierre G | |
| 700 | 1 | _aLourenço, Charles M | |
| 700 | 1 | _aMalpas, Timothy J | |
| 700 | 1 | _aMehta, Sarju G | |
| 700 | 1 | _aMetz, Imke | |
| 700 | 1 | _aNaidu, Sakkubai | |
| 700 | 1 | _aÕunap, Katrin | |
| 700 | 1 | _aPanzer, Axel | |
| 700 | 1 | _aPrabhakar, Prab | |
| 700 | 1 | _aQuaghebeur, Gerardine | |
| 700 | 1 | _aSchiffmann, Raphael | |
| 700 | 1 | _aSherr, Elliott H | |
| 700 | 1 | _aSinnathuray, Kanaga R | |
| 700 | 1 | _aSoh, Calvin | |
| 700 | 1 | _aStewart, Helen S | |
| 700 | 1 | _aStone, John | |
| 700 | 1 | _aVan Esch, Hilde | |
| 700 | 1 | _aVan Mol, Christine E G | |
| 700 | 1 | _aVanderver, Adeline | |
| 700 | 1 | _aWakeling, Emma L | |
| 700 | 1 | _aWhitney, Andrea | |
| 700 | 1 | _aPavitt, Graham D | |
| 700 | 1 | _aGriffiths-Jones, Sam | |
| 700 | 1 | _aRice, Gillian I | |
| 700 | 1 | _aRevy, Patrick | |
| 700 | 1 | _avan der Knaap, Marjo S | |
| 700 | 1 | _aLivingston, John H | |
| 700 | 1 | _aO'Keefe, Raymond T | |
| 700 | 1 | _aCrow, Yanick J | |
| 773 | 0 |
_tNature genetics _gvol. 48 _gno. 10 _gp. 1185-92 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ng.3661 _zAvailable from publisher's website |
| 999 |
_c26369422 _d26369422 |
||