| 000 | 00922 a2200277 4500 | ||
|---|---|---|---|
| 005 | 20250517192318.0 | ||
| 008 | ####s 0 0 eng d | ||
| 022 | _a2056-7944 | ||
| 024 | 7 |
_a10.1038/s41525-017-0024-5 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aDinur Schejter, Yael | |
| 245 | 0 | 0 |
_aA homozygous mutation in the stem II domain of _h[electronic resource] |
| 260 |
_bNPJ genomic medicine _c2017 |
||
| 300 |
_a23 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 700 | 1 | _aOvadia, Adi | |
| 700 | 1 | _aAlexandrova, Roumiana | |
| 700 | 1 | _aThiruvahindrapuram, Bhooma | |
| 700 | 1 | _aPereira, Sergio L | |
| 700 | 1 | _aManson, David E | |
| 700 | 1 | _aVincent, Ajoy | |
| 700 | 1 | _aMerico, Daniele | |
| 700 | 1 | _aRoifman, Chaim M | |
| 773 | 0 |
_tNPJ genomic medicine _gvol. 2 _gp. 23 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/s41525-017-0024-5 _zAvailable from publisher's website |
| 999 |
_c27911426 _d27911426 |
||