000 | 01988 a2200589 4500 | ||
---|---|---|---|
005 | 20250518055911.0 | ||
264 | 0 | _c20200622 | |
008 | 202006s 0 0 eng d | ||
022 | _a2324-9269 | ||
024 | 7 |
_a10.1002/mgg3.954 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aRahman, Muhammad M | |
245 | 0 | 0 |
_aGonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes. _h[electronic resource] |
260 |
_bMolecular genetics & genomic medicine _c10 2019 |
||
300 |
_ae00954 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aChild |
650 | 0 | 4 | _aChild, Preschool |
650 | 0 | 4 | _aChromosomes, Human, Pair 15 |
650 | 0 | 4 | _aChromosomes, Human, Pair 7 |
650 | 0 | 4 | _aDipeptidyl-Peptidases and Tripeptidyl-Peptidases |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aGene Deletion |
650 | 0 | 4 | _aGene Duplication |
650 | 0 | 4 | _aGenetic Variation |
650 | 0 | 4 |
_aGonads _xmetabolism |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aIntellectual Disability _xdiagnosis |
650 | 0 | 4 | _aMale |
650 | 0 | 4 |
_aMembrane Proteins _xgenetics |
650 | 0 | 4 | _aMosaicism |
650 | 0 | 4 |
_aNerve Tissue Proteins _xgenetics |
650 | 0 | 4 | _aPhenotype |
650 | 0 | 4 | _aPotassium Channels |
650 | 0 | 4 |
_aReceptor, IGF Type 1 _xgenetics |
700 | 1 | _aUddin, Km Furkan | |
700 | 1 | _aAl Jezawi, Nesreen K | |
700 | 1 | _aKaruvantevida, Noushad | |
700 | 1 | _aAkter, Hosneara | |
700 | 1 | _aDity, Nushrat J | |
700 | 1 | _aRahaman, Md Ashiquir | |
700 | 1 | _aBegum, Maksuda | |
700 | 1 | _aRahaman, Md Atikur | |
700 | 1 | _aBaqui, Md Abdul | |
700 | 1 | _aSalwa, Zeena | |
700 | 1 | _aIslam, Serajul | |
700 | 1 | _aWoodbury-Smith, Marc | |
700 | 1 | _aBasiruzzaman, Mohammed | |
700 | 1 | _aUddin, Mohammed | |
773 | 0 |
_tMolecular genetics & genomic medicine _gvol. 7 _gno. 10 _gp. e00954 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/mgg3.954 _zAvailable from publisher's website |
999 |
_c30067282 _d30067282 |