Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing.
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J Med Genet. 2013 Sep 18. [Epub ahead of print]
Heterozygous mutations in the ADCK3 gene in siblings with cerebellar atrophy and extreme phenotypic variability.
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JIMD Rep. 2013 Sep 19. [Epub ahead of print]
Exome sequencing and in vitro studies identified podocalyxin as a candidate gene for focal and segmental glomerulosclerosis.
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Kidney Int. 2013 Sep 18. [Epub ahead of print]
BCOR and BCORL1 mutations in myelodysplastic syndromes and related disorders.
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Blood. 2013 Sep 18. [Epub ahead of print]
Circulating fetal cell-free DNA fractions differ in autosomal aneuploidies and monosomy X.
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Clin Chem. 2013 Sep 17. [Epub ahead of print]
A mutation in the nuclear pore complex gene Tmem48 causes gametogenesis defects in skeletal fusions with sterility (sks) mice.
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J Biol Chem. 2013 Sep 17. [Epub ahead of print]
Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.
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Eur J Hum Genet. 2013 Sep 18. [Epub ahead of print]
Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.
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Eur J Hum Genet. 2013 Sep 18. [Epub ahead of print]
The role of INNO-LiPA HBV DR and ultra-deep pyrosequencing in detecting the resistance mutations to nucleoside/nucleotide analogues in viral samples isolated from chronic hepatitis B patients.
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J Gen Virol. 2013 Sep 17. [Epub ahead of print]
De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.
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BMC Med Genomics. 2013 Sep 17;6(1):32.
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.
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Proc Natl Acad Sci U S A. 2013 Sep 16. [Epub ahead of print]
A new RNA-seq method to detect the transcription and non-coding RNA in prostate cancer.
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Pathol Oncol Res. 2013 Sep 17. [Epub ahead of print]
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.
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JAMA Neurol. 2013 Sep 16. [Epub ahead of print]
Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions.
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Neurobiol Aging. 2013 Sep 13. [Epub ahead of print]
Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity, through one step PCR-based enrichment in combination with next-generation sequencing.
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Diabetes Care. 2013 Sep 16. [Epub ahead of print]