| 000 | 03844 a2201237 4500 | ||
|---|---|---|---|
| 005 | 20250517235142.0 | ||
| 264 | 0 | _c20190618 | |
| 008 | 201906s 0 0 eng d | ||
| 022 | _a1530-0366 | ||
| 024 | 7 |
_a10.1038/s41436-018-0269-0 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKoczkowska, Magdalena | |
| 245 | 0 | 0 |
_aExpanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. _h[electronic resource] |
| 260 |
_bGenetics in medicine : official journal of the American College of Medical Genetics _c04 2019 |
||
| 300 |
_a867-876 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 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aLearning Disabilities _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 |
_aNeurofibroma, Plexiform _xgenetics |
| 650 | 0 | 4 |
_aNeurofibromatosis 1 _xgenetics |
| 650 | 0 | 4 |
_aNeurofibromin 1 _xgenetics |
| 650 | 0 | 4 | _aSequence Deletion |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aCallens, Tom | |
| 700 | 1 | _aGomes, Alicia | |
| 700 | 1 | _aSharp, Angela | |
| 700 | 1 | _aChen, Yunjia | |
| 700 | 1 | _aHicks, Alesha D | |
| 700 | 1 | _aAylsworth, Arthur S | |
| 700 | 1 | _aAzizi, Amedeo A | |
| 700 | 1 | _aBasel, Donald G | |
| 700 | 1 | _aBellus, Gary | |
| 700 | 1 | _aBird, Lynne M | |
| 700 | 1 | _aBlazo, Maria A | |
| 700 | 1 | _aBurke, Leah W | |
| 700 | 1 | _aCannon, Ashley | |
| 700 | 1 | _aCollins, Felicity | |
| 700 | 1 | _aDeFilippo, Colette | |
| 700 | 1 | _aDenayer, Ellen | |
| 700 | 1 | _aDigilio, Maria C | |
| 700 | 1 | _aDills, Shelley K | |
| 700 | 1 | _aDosa, Laura | |
| 700 | 1 | _aGreenwood, Robert S | |
| 700 | 1 | _aGriffis, Cristin | |
| 700 | 1 | _aGupta, Punita | |
| 700 | 1 | _aHachen, Rachel K | |
| 700 | 1 | _aHernández-Chico, Concepción | |
| 700 | 1 | _aJanssens, Sandra | |
| 700 | 1 | _aJones, Kristi J | |
| 700 | 1 | _aJordan, Justin T | |
| 700 | 1 | _aKannu, Peter | |
| 700 | 1 | _aKorf, Bruce R | |
| 700 | 1 | _aLewis, Andrea M | |
| 700 | 1 | _aListernick, Robert H | |
| 700 | 1 | _aLonardo, Fortunato | |
| 700 | 1 | _aMahoney, Maurice J | |
| 700 | 1 | _aOjeda, Mayra Martinez | |
| 700 | 1 | _aMcDonald, Marie T | |
| 700 | 1 | _aMcDougall, Carey | |
| 700 | 1 | _aMendelsohn, Nancy | |
| 700 | 1 | _aMiller, David T | |
| 700 | 1 | _aMori, Mari | |
| 700 | 1 | _aOostenbrink, Rianne | |
| 700 | 1 | _aPerreault, Sebastién | |
| 700 | 1 | _aPierpont, Mary Ella | |
| 700 | 1 | _aPiscopo, Carmelo | |
| 700 | 1 | _aPond, Dinel A | |
| 700 | 1 | _aRandolph, Linda M | |
| 700 | 1 | _aRauen, Katherine A | |
| 700 | 1 | _aRednam, Surya | |
| 700 | 1 | _aRutledge, S Lane | |
| 700 | 1 | _aSaletti, Veronica | |
| 700 | 1 | _aSchaefer, G Bradley | |
| 700 | 1 | _aSchorry, Elizabeth K | |
| 700 | 1 | _aScott, Daryl A | |
| 700 | 1 | _aShugar, Andrea | |
| 700 | 1 | _aSiqveland, Elizabeth | |
| 700 | 1 | _aStarr, Lois J | |
| 700 | 1 | _aSyed, Ashraf | |
| 700 | 1 | _aTrapane, Pamela L | |
| 700 | 1 | _aUllrich, Nicole J | |
| 700 | 1 | _aWakefield, Emily G | |
| 700 | 1 | _aWalsh, Laurence E | |
| 700 | 1 | _aWangler, Michael F | |
| 700 | 1 | _aZackai, Elaine | |
| 700 | 1 | _aClaes, Kathleen B M | |
| 700 | 1 | _aWimmer, Katharina | |
| 700 | 1 | _avan Minkelen, Rick | |
| 700 | 1 | _aDe Luca, Alessandro | |
| 700 | 1 | _aMartin, Yolanda | |
| 700 | 1 | _aLegius, Eric | |
| 700 | 1 | _aMessiaen, Ludwine M | |
| 773 | 0 |
_tGenetics in medicine : official journal of the American College of Medical Genetics _gvol. 21 _gno. 4 _gp. 867-876 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/s41436-018-0269-0 _zAvailable from publisher's website |
| 999 |
_c28811328 _d28811328 |
||