| 000 | 01884 a2200589 4500 | ||
|---|---|---|---|
| 005 | 20250516071648.0 | ||
| 264 | 0 | _c20120312 | |
| 008 | 201203s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2011.11.014 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKalay, Ersan | |
| 245 | 0 | 0 |
_aMutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cJan 2012 |
||
| 300 |
_a76-85 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 21 _xgenetics |
| 650 | 0 | 4 |
_aCleft Lip _xgenetics |
| 650 | 0 | 4 |
_aCleft Palate _xgenetics |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMice |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNF-kappa B _xmetabolism |
| 650 | 0 | 4 | _aPolymorphism, Single Nucleotide |
| 650 | 0 | 4 |
_aProtein Serine-Threonine Kinases _xgenetics |
| 650 | 0 | 4 |
_aPterygium _xcongenital |
| 650 | 0 | 4 | _aSkin Abnormalities |
| 700 | 1 | _aSezgin, Orhan | |
| 700 | 1 | _aChellappa, Vasant | |
| 700 | 1 | _aMutlu, Mehmet | |
| 700 | 1 | _aMorsy, Heba | |
| 700 | 1 | _aKayserili, Hulya | |
| 700 | 1 | _aKreiger, Elmar | |
| 700 | 1 | _aCansu, Aysegul | |
| 700 | 1 | _aToraman, Bayram | |
| 700 | 1 | _aAbdalla, Ebtesam Mohammed | |
| 700 | 1 | _aAslan, Yakup | |
| 700 | 1 | _aPillai, Shiv | |
| 700 | 1 | _aAkarsu, Nurten A | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 90 _gno. 1 _gp. 76-85 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2011.11.014 _zAvailable from publisher's website |
| 999 |
_c21417874 _d21417874 |
||