000 | 02121 a2200637 4500 | ||
---|---|---|---|
005 | 20250515104342.0 | ||
264 | 0 | _c20080422 | |
008 | 200804s 0 0 eng d | ||
022 | _a1432-1203 | ||
024 | 7 |
_a10.1007/s00439-008-0467-y _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aJalali, Ali | |
245 | 0 | 0 |
_aLinkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity. _h[electronic resource] |
260 |
_bHuman genetics _cApr 2008 |
||
300 |
_a237-45 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Comparative Study; Journal Article; Research Support, N.I.H., Extramural | ||
650 | 0 | 4 | _aChild, Preschool |
650 | 0 | 4 | _aChromosome Deletion |
650 | 0 | 4 |
_aChromosomes, Human, Pair 2 _xgenetics |
650 | 0 | 4 |
_aDandy-Walker Syndrome _xcomplications |
650 | 0 | 4 |
_aEncephalocele _xcomplications |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aGenes, Dominant |
650 | 0 | 4 | _aGenetic Heterogeneity |
650 | 0 | 4 |
_aGenetic Linkage _xgenetics |
650 | 0 | 4 | _aGenome, Human |
650 | 0 | 4 | _aGenotype |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aIn Situ Hybridization, Fluorescence |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aNucleic Acid Hybridization |
650 | 0 | 4 |
_aOccipital Bone _xabnormalities |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 |
_aPolymorphism, Single Nucleotide _xgenetics |
700 | 1 | _aAldinger, Kimberly A | |
700 | 1 | _aChary, Ajit | |
700 | 1 | _aMcLone, David G | |
700 | 1 | _aBowman, Robin M | |
700 | 1 | _aLe, Luan Cong | |
700 | 1 | _aJardine, Phillip | |
700 | 1 | _aNewbury-Ecob, Ruth | |
700 | 1 | _aMallick, Andrew | |
700 | 1 | _aJafari, Nadereh | |
700 | 1 | _aRussell, Eric J | |
700 | 1 | _aCurran, John | |
700 | 1 | _aNguyen, Pam | |
700 | 1 | _aOuahchi, Karim | |
700 | 1 | _aLee, Charles | |
700 | 1 | _aDobyns, William B | |
700 | 1 | _aMillen, Kathleen J | |
700 | 1 | _aPina-Neto, Joao M | |
700 | 1 | _aKessler, John A | |
700 | 1 | _aBassuk, Alexander G | |
773 | 0 |
_tHuman genetics _gvol. 123 _gno. 3 _gp. 237-45 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1007/s00439-008-0467-y _zAvailable from publisher's website |
999 |
_c17712755 _d17712755 |