Detalhe da pesquisa
1.
Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.
Hum Genomics
; 11(1): 28, 2017 Nov 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-29137650
2.
Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.
Hum Genomics
; 11(1): 33, 2017 12 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29221463
3.
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Hum Genet
; 136(8): 921-939, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28600779
4.
A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.
Hum Genomics
; 10(1): 32, 2016 Sep 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-27671536
5.
Geospatial Resolution of Human and Bacterial Diversity with City-Scale Metagenomics.
Cell Syst
; 1(1): 72-87, 2015 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-26594662
6.
Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome.
Neuromuscul Disord
; 24(4): 353-9, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24461433
7.
Geospatial Resolution of Human and Bacterial Diversity with City-Scale Metagenomics.
Cell Syst
; 1(1): 97-97.e3, 2015 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-27135689
8.
Modern Methods for Delineating Metagenomic Complexity.
Cell Syst
; 1(1): 6-7, 2015 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-27135684