| 000 | 03837 a2201285 4500 | ||
|---|---|---|---|
| 005 | 20250517193136.0 | ||
| 264 | 0 | _c20181211 | |
| 008 | 201812s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2017.12.001 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKoczkowska, Magdalena | |
| 245 | 0 | 0 |
_aGenotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _c01 2018 |
||
| 300 |
_a69-87 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aCodon _xgenetics |
| 650 | 0 | 4 | _aCohort Studies |
| 650 | 0 | 4 | _aComputer Simulation |
| 650 | 0 | 4 | _aDemography |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 |
_aNeurofibromatosis 1 _xgenetics |
| 650 | 0 | 4 |
_aNeurofibromin 1 _xchemistry |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aChen, Yunjia | |
| 700 | 1 | _aCallens, Tom | |
| 700 | 1 | _aGomes, Alicia | |
| 700 | 1 | _aSharp, Angela | |
| 700 | 1 | _aJohnson, Sherrell | |
| 700 | 1 | _aHsiao, Meng-Chang | |
| 700 | 1 | _aChen, Zhenbin | |
| 700 | 1 | _aBalasubramanian, Meena | |
| 700 | 1 | _aBarnett, Christopher P | |
| 700 | 1 | _aBecker, Troy A | |
| 700 | 1 | _aBen-Shachar, Shay | |
| 700 | 1 | _aBertola, Debora R | |
| 700 | 1 | _aBlakeley, Jaishri O | |
| 700 | 1 | _aBurkitt-Wright, Emma M M | |
| 700 | 1 | _aCallaway, Alison | |
| 700 | 1 | _aCrenshaw, Melissa | |
| 700 | 1 | _aCunha, Karin S | |
| 700 | 1 | _aCunningham, Mitch | |
| 700 | 1 | _aD'Agostino, Maria D | |
| 700 | 1 | _aDahan, Karin | |
| 700 | 1 | _aDe Luca, Alessandro | |
| 700 | 1 | _aDestrée, Anne | |
| 700 | 1 | _aDhamija, Radhika | |
| 700 | 1 | _aEoli, Marica | |
| 700 | 1 | _aEvans, D Gareth R | |
| 700 | 1 | _aGalvin-Parton, Patricia | |
| 700 | 1 | _aGeorge-Abraham, Jaya K | |
| 700 | 1 | _aGripp, Karen W | |
| 700 | 1 | _aGuevara-Campos, Jose | |
| 700 | 1 | _aHanchard, Neil A | |
| 700 | 1 | _aHernández-Chico, Concepcion | |
| 700 | 1 | _aImmken, LaDonna | |
| 700 | 1 | _aJanssens, Sandra | |
| 700 | 1 | _aJones, Kristi J | |
| 700 | 1 | _aKeena, Beth A | |
| 700 | 1 | _aKochhar, Aaina | |
| 700 | 1 | _aLiebelt, Jan | |
| 700 | 1 | _aMartir-Negron, Arelis | |
| 700 | 1 | _aMahoney, Maurice J | |
| 700 | 1 | _aMaystadt, Isabelle | |
| 700 | 1 | _aMcDougall, Carey | |
| 700 | 1 | _aMcEntagart, Meriel | |
| 700 | 1 | _aMendelsohn, Nancy | |
| 700 | 1 | _aMiller, David T | |
| 700 | 1 | _aMortier, Geert | |
| 700 | 1 | _aMorton, Jenny | |
| 700 | 1 | _aPappas, John | |
| 700 | 1 | _aPlotkin, Scott R | |
| 700 | 1 | _aPond, Dinel | |
| 700 | 1 | _aRosenbaum, Kenneth | |
| 700 | 1 | _aRubin, Karol | |
| 700 | 1 | _aRussell, Laura | |
| 700 | 1 | _aRutledge, Lane S | |
| 700 | 1 | _aSaletti, Veronica | |
| 700 | 1 | _aSchonberg, Rhonda | |
| 700 | 1 | _aSchreiber, Allison | |
| 700 | 1 | _aSeidel, Meredith | |
| 700 | 1 | _aSiqveland, Elizabeth | |
| 700 | 1 | _aStockton, David W | |
| 700 | 1 | _aTrevisson, Eva | |
| 700 | 1 | _aUllrich, Nicole J | |
| 700 | 1 | _aUpadhyaya, Meena | |
| 700 | 1 | _avan Minkelen, Rick | |
| 700 | 1 | _aVerhelst, Helene | |
| 700 | 1 | _aWallace, Margaret R | |
| 700 | 1 | _aYap, Yoon-Sim | |
| 700 | 1 | _aZackai, Elaine | |
| 700 | 1 | _aZonana, Jonathan | |
| 700 | 1 | _aZurcher, Vickie | |
| 700 | 1 | _aClaes, Kathleen | |
| 700 | 1 | _aMartin, Yolanda | |
| 700 | 1 | _aKorf, Bruce R | |
| 700 | 1 | _aLegius, Eric | |
| 700 | 1 | _aMessiaen, Ludwine M | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 102 _gno. 1 _gp. 69-87 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2017.12.001 _zAvailable from publisher's website |
| 999 |
_c27937433 _d27937433 |
||