| 000 | 02543 a2200781 4500 | ||
|---|---|---|---|
| 005 | 20250518051631.0 | ||
| 264 | 0 | _c20200316 | |
| 008 | 202003s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2019.06.014 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKanca, Oguz | |
| 245 | 0 | 0 |
_aDe Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _c08 2019 |
||
| 300 |
_a413-424 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 |
_aBody Dysmorphic Disorders _xgenetics |
| 650 | 0 | 4 |
_aCerebellum _xabnormalities |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aColoboma _xgenetics |
| 650 | 0 | 4 |
_aDevelopmental Disabilities _xgenetics |
| 650 | 0 | 4 |
_aDrosophila melanogaster _xgenetics |
| 650 | 0 | 4 |
_aEpilepsy _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMicrofilament Proteins _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNervous System Malformations _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSequence Homology |
| 650 | 0 | 4 |
_aWD40 Repeats _xgenetics |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aAndrews, Jonathan C | |
| 700 | 1 | _aLee, Pei-Tseng | |
| 700 | 1 | _aPatel, Chirag | |
| 700 | 1 | _aBraddock, Stephen R | |
| 700 | 1 | _aSlavotinek, Anne M | |
| 700 | 1 | _aCohen, Julie S | |
| 700 | 1 | _aGubbels, Cynthia S | |
| 700 | 1 | _aAldinger, Kimberly A | |
| 700 | 1 | _aWilliams, Judy | |
| 700 | 1 | _aIndaram, Maanasa | |
| 700 | 1 | _aFatemi, Ali | |
| 700 | 1 | _aYu, Timothy W | |
| 700 | 1 | _aAgrawal, Pankaj B | |
| 700 | 1 | _aVezina, Gilbert | |
| 700 | 1 | _aSimons, Cas | |
| 700 | 1 | _aCrawford, Joanna | |
| 700 | 1 | _aLau, C Christopher | |
| 700 | 1 | _aChung, Wendy K | |
| 700 | 1 | _aMarkello, Thomas C | |
| 700 | 1 | _aDobyns, William B | |
| 700 | 1 | _aAdams, David R | |
| 700 | 1 | _aGahl, William A | |
| 700 | 1 | _aWangler, Michael F | |
| 700 | 1 | _aYamamoto, Shinya | |
| 700 | 1 | _aBellen, Hugo J | |
| 700 | 1 | _aMalicdan, May Christine V | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 105 _gno. 2 _gp. 413-424 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2019.06.014 _zAvailable from publisher's website |
| 999 |
_c29922523 _d29922523 |
||