| 000 | 01744 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250516054314.0 | ||
| 264 | 0 | _c20120118 | |
| 008 | 201201s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.34214 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMatejas, Verena | |
| 245 | 0 | 0 |
_aPaternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria-congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cOct 2011 |
||
| 300 |
_a2601-4 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aBiopsy |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 3 _xgenetics |
| 650 | 0 | 4 |
_aEye Abnormalities _xgenetics |
| 650 | 0 | 4 | _aFatal Outcome |
| 650 | 0 | 4 | _aGermany |
| 650 | 0 | 4 |
_aHaplotypes _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aKidney _xpathology |
| 650 | 0 | 4 |
_aLaminin _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMyasthenic Syndromes, Congenital |
| 650 | 0 | 4 | _aNephrotic Syndrome |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPupil Disorders _xgenetics |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 |
_aUniparental Disomy _xgenetics |
| 700 | 1 | _aMuscheites, Jutta | |
| 700 | 1 | _aWigger, Marianne | |
| 700 | 1 | _aKreutzer, Hans-Jürgen | |
| 700 | 1 | _aNizze, Horst | |
| 700 | 1 | _aZenker, Martin | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 155A _gno. 10 _gp. 2601-4 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.34214 _zAvailable from publisher's website |
| 999 |
_c21150089 _d21150089 |
||