| 000 | 01551 a2200409 4500 | ||
|---|---|---|---|
| 005 | 20250515233959.0 | ||
| 264 | 0 | _c20101215 | |
| 008 | 201012s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.33550 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMademont-Soler, Irene | |
| 245 | 0 | 0 |
_aDescription of the smallest critical region for Dandy-Walker malformation in chromosome 13 in a girl with a cryptic deletion related to t(6;13)(q23;q32). _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cSep 2010 |
||
| 300 |
_a2308-12 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAbnormalities, Multiple |
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 13 _xgenetics |
| 650 | 0 | 4 | _aChromosomes, Human, Pair 6 |
| 650 | 0 | 4 |
_aComparative Genomic Hybridization _xmethods |
| 650 | 0 | 4 | _aDNA-Binding Proteins |
| 650 | 0 | 4 |
_aDandy-Walker Syndrome _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aNuclear Proteins _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSequence Deletion |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 650 | 0 | 4 | _aTranslocation, Genetic |
| 700 | 1 | _aMorales, Carme | |
| 700 | 1 | _aArmengol, Lluís | |
| 700 | 1 | _aSoler, Anna | |
| 700 | 1 | _aSánchez, Aurora | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 152A _gno. 9 _gp. 2308-12 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.33550 _zAvailable from publisher's website |
| 999 |
_c20022831 _d20022831 |
||