| 000 | 01715 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250515210547.0 | ||
| 264 | 0 | _c20100726 | |
| 008 | 201007s 0 0 eng d | ||
| 022 | _a1432-1076 | ||
| 024 | 7 |
_a10.1007/s00431-010-1150-6 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aFaiyaz-Ul-Haque, Muhammad | |
| 245 | 0 | 0 |
_aA novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations. _h[electronic resource] |
| 260 |
_bEuropean journal of pediatrics _cJun 2010 |
||
| 300 |
_a661-6 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAdaptor Proteins, Signal Transducing _xgenetics |
| 650 | 0 | 4 | _aApoptosis |
| 650 | 0 | 4 |
_aArabs _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aDevelopmental Disabilities _xethnology |
| 650 | 0 | 4 |
_aEpilepsy, Generalized _xethnology |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMembrane Potential, Mitochondrial |
| 650 | 0 | 4 |
_aNeutropenia _xcomplications |
| 650 | 0 | 4 |
_aNeutrophils _xmetabolism |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aSaudi Arabia |
| 700 | 1 | _aAl-Jefri, Abdullah | |
| 700 | 1 | _aAl-Dayel, Fouad | |
| 700 | 1 | _aBhuiyan, Jalaluddin A K M | |
| 700 | 1 | _aAbalkhail, Hala A | |
| 700 | 1 | _aAl-Nounou, Randa | |
| 700 | 1 | _aAl-Abdullatif, Ahmed | |
| 700 | 1 | _aPulicat, Monogaran S | |
| 700 | 1 | _aGaafar, Ameera | |
| 700 | 1 | _aAlaiya, Ayodele A | |
| 700 | 1 | _aPeltekova, Iskra | |
| 700 | 1 | _aZaidi, Syed H E | |
| 773 | 0 |
_tEuropean journal of pediatrics _gvol. 169 _gno. 6 _gp. 661-6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s00431-010-1150-6 _zAvailable from publisher's website |
| 999 |
_c19551227 _d19551227 |
||