| 000 | 01861 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250516013550.0 | ||
| 264 | 0 | _c20110315 | |
| 008 | 201103s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.33738 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aAl-Kateb, Hussam | |
| 245 | 0 | 0 |
_aMolecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cDec 2010 |
||
| 300 |
_a3148-53 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Comparative Study; Journal Article; Review | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aChromosome Banding |
| 650 | 0 | 4 | _aChromosome Breakage |
| 650 | 0 | 4 | _aChromosome Deletion |
| 650 | 0 | 4 | _aChromosomes, Artificial, Bacterial |
| 650 | 0 | 4 | _aChromosomes, Human, Pair 19 |
| 650 | 0 | 4 | _aComparative Genomic Hybridization |
| 650 | 0 | 4 |
_aDNA _xgenetics |
| 650 | 0 | 4 |
_aEctodermal Dysplasia _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aHeart Defects, Congenital _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 |
_aMuscle Hypotonia _xgenetics |
| 650 | 0 | 4 | _aOligonucleotide Array Sequence Analysis |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPhysical Chromosome Mapping |
| 650 | 0 | 4 | _aPolymorphism, Single Nucleotide |
| 650 | 0 | 4 | _aSeverity of Illness Index |
| 700 | 1 | _aHahn, Amanda | |
| 700 | 1 | _aGastier-Foster, Julie M | |
| 700 | 1 | _aJeng, Linda | |
| 700 | 1 | _aMcCandless, Shawn E | |
| 700 | 1 | _aCurtis, Christine A | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 152A _gno. 12 _gp. 3148-53 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.33738 _zAvailable from publisher's website |
| 999 |
_c20401384 _d20401384 |
||