| 000 | 01729 a2200529 4500 | ||
|---|---|---|---|
| 005 | 20250514001709.0 | ||
| 264 | 0 | _c20011011 | |
| 008 | 200110s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmg.38.6.369 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBayoumi, R | |
| 245 | 0 | 0 |
_aLocalisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cJun 2001 |
||
| 300 |
_a369-73 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 | _aAggrecans |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aChromosome Mapping |
| 650 | 0 | 4 | _aChromosomes, Human, Pair 12 |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 |
_aCraniofacial Abnormalities _xgenetics |
| 650 | 0 | 4 | _aExtracellular Matrix Proteins |
| 650 | 0 | 4 | _aFacies |
| 650 | 0 | 4 | _aFamily Health |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aLectins, C-Type |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aOsteochondrodysplasias _xdiagnostic imaging |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPolymorphism, Single Nucleotide |
| 650 | 0 | 4 |
_aProteoglycans _xgenetics |
| 650 | 0 | 4 | _aRadiography |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aSaar, K | |
| 700 | 1 | _aLee, Y A | |
| 700 | 1 | _aNürnberg, G | |
| 700 | 1 | _aReis, A | |
| 700 | 1 | _aNur-E-Kamal, M | |
| 700 | 1 | _aAl-Gazali, L I | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 38 _gno. 6 _gp. 369-73 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmg.38.6.369 _zAvailable from publisher's website |
| 999 |
_c11320013 _d11320013 |
||