000 | 02003 a2200601 4500 | ||
---|---|---|---|
005 | 20250516151421.0 | ||
264 | 0 | _c20140102 | |
008 | 201401s 0 0 eng d | ||
022 | _a1750-1172 | ||
024 | 7 |
_a10.1186/1750-1172-8-75 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aFerraris, Alessandro | |
245 | 0 | 0 |
_aDandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions. _h[electronic resource] |
260 |
_bOrphanet journal of rare diseases _cMay 2013 |
||
300 |
_a75 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aAdult |
650 | 0 | 4 | _aChild |
650 | 0 | 4 | _aChild, Preschool |
650 | 0 | 4 | _aChromosome Deletion |
650 | 0 | 4 |
_aChromosomes, Human, Pair 3 _xgenetics |
650 | 0 | 4 |
_aDandy-Walker Syndrome _xgenetics |
650 | 0 | 4 |
_aFace _xabnormalities |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aGenetic Association Studies |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aPhenotype |
650 | 0 | 4 |
_aPolymorphism, Single Nucleotide _xgenetics |
650 | 0 | 4 |
_aTranscription Factors _xgenetics |
650 | 0 | 4 | _aWisconsin |
650 | 0 | 4 | _aYoung Adult |
650 | 0 | 4 |
_aZinc Fingers _xgenetics |
700 | 1 | _aBernardini, Laura | |
700 | 1 | _aSabolic Avramovska, Vesna | |
700 | 1 | _aZanni, Ginevra | |
700 | 1 | _aLoddo, Sara | |
700 | 1 | _aSukarova-Angelovska, Elena | |
700 | 1 | _aParisi, Valentina | |
700 | 1 | _aCapalbo, Anna | |
700 | 1 | _aTumini, Stefano | |
700 | 1 | _aTravaglini, Lorena | |
700 | 1 | _aMancini, Francesca | |
700 | 1 | _aDuma, Filip | |
700 | 1 | _aBarresi, Sabina | |
700 | 1 | _aNovelli, Antonio | |
700 | 1 | _aMercuri, Eugenio | |
700 | 1 | _aTarani, Luigi | |
700 | 1 | _aBertini, Enrico | |
700 | 1 | _aDallapiccola, Bruno | |
700 | 1 | _aValente, Enza Maria | |
773 | 0 |
_tOrphanet journal of rare diseases _gvol. 8 _gp. 75 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1186/1750-1172-8-75 _zAvailable from publisher's website |
999 |
_c22756972 _d22756972 |