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1.
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
J Med Genet
; 58(4): 275-283, 2021 04.
Article
in English
| MEDLINE | ID: mdl-32581083
2.
Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency.
Clin Genet
; 98(6): 613-619, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32888207
3.
Warsaw breakage syndrome: Further clinical and genetic delineation.
Am J Med Genet A
; 176(11): 2404-2418, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30216658
4.
Genetic modifiers of abnormal organelle biogenesis in a Drosophila model of BLOC-1 deficiency.
Hum Mol Genet
; 19(5): 861-78, 2010 Mar 01.
Article
in English
| MEDLINE | ID: mdl-20015953
5.
The white gene of Drosophila melanogaster encodes a protein with a role in courtship behavior.
J Neurogenet
; 22(4): 243-76, 2008.
Article
in English
| MEDLINE | ID: mdl-19012054
6.
Aspectos do cuidado de enfermagem a tetânicos em unidade de cuidados intensivos / /
Rev. bras. enferm
; 20(4): 295-301, ago. 1967.
Article
in Portuguese
| BDENF - nursing (Brazil) | ID: biblio-1030420
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