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